chlorine and Cystic Fibrosis of Pancreas studies

chloride : A halide anion formed when chlorine picks up an electron to form an an anion.

Research Excerpts

Excerpt	Relevance	Reference
"We provide evidence that combination lumacaftor and ivacaftor improves FEV1 for patients with cystic fibrosis who are homozygous for phe508del CFTR, with a modest effect on sweat chloride concentration."	9.19	A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. ( Bell, SC; Boyle, MP; Huang, X; Konstan, MW; McColley, SA; Patel, NR; Rietschel, E; Rodman, D; Rowe, SM; Waltz, D, 2014)
" Its direct inhibition by camostat represents a potential approach to inhibiting sodium transport in cystic fibrosis (CF)."	9.17	Reduced sodium transport with nasal administration of the prostasin inhibitor camostat in subjects with cystic fibrosis. ( Abbi, S; Clancy, JP; Danahay, H; Hathorne, H; Lock, R; Reeves, G; Renard, D; Rowe, SM; Solomon, GM; Waltz, DA; Zhou, P, 2013)
"We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study)."	9.14	Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. ( Accurso, FJ; Aitken, ML; Ashlock, MA; Boyle, MP; Campbell, PW; Clancy, JP; Donaldson, SH; Dong, Q; Dunitz, JM; Durie, PR; Freedman, SD; Hornick, DB; Konstan, MW; Mayer-Hamblett, N; Moss, RB; Olson, ER; Ordoñez, CL; Pilewski, JM; Ramsey, BW; Rose, LM; Rowe, SM; Rubenstein, RC; Sagel, SD; Stone, AJ; Uluer, AZ; Zha, J, 2010)
"Lumacaftor/Ivacaftor (LUM-IVA), a cystic fibrosis transmembrane conductance regulator (CFTR) protein corrector-potentiator combination, improves lung function and reduces pulmonary exacerbations (PEx) in F508del homozygous CF patients."	8.12	Real life evaluation of the multi-organ effects of Lumacaftor/Ivacaftor on F508del homozygous cystic fibrosis patients. ( Ilivitzki, A; Khatib, M; Koren, I; Livnat, G; Schnapp, Z; Shorbaji, N; Shteinberg, M; Yaacoby-Bianu, K, 2022)
"Ambroxol, a mucokinetic anti-inflammatory drug, has been used for treatment of cystic fibrosis (CF)."	7.79	The effect of ambroxol on chloride transport, CFTR and ENaC in cystic fibrosis airway epithelial cells. ( Hussain, R; Johannesson, M; Oliynyk, I; Roomans, GM; Strid, H; Varelogianni, G, 2013)
"Twenty-one children receiving topiramate and 20 healthy controls with no signs or symptoms of pulmonary or gastrointestinal disease and a negative family history for cystic fibrosis (CF) underwent bilateral pilocarpine iontophoresis and sweat collection via Macroduct® system."	7.78	Elevated sweat chloride concentration in children without cystic fibrosis who are receiving topiramate therapy. ( Guglani, L; Kurland, G; Lower, D; Sitwat, B; Weiner, DJ, 2012)
"The endogenous bronchodilator, S-nitrosoglutathione (GSNO), has been proposed as a possible pharmacological remedy that reverses the ΔF508-CFTR (cystic fibrosis transmembrane conductance regulator) maturation defect and increases CFTR-mediated chloride efflux in cultured cystic fibrosis airway epithelial cells (CFBE41o(-))."	7.77	The effect of S-nitrosoglutathione and L-cysteine on chloride efflux from cystic fibrosis airway epithelial cells. ( Dragomir, A; Gaston, B; Hjelte, L; Jiang, S; Roomans, GM; Servetnyk, Z, 2011)
" aeruginosa also infects the lungs of cystic fibrosis (CF) patients and secretes N-(3-oxo-dodecanoyl)-S-homoserine lactone (3O-C12) to regulate bacterial gene expression critical for P."	7.76	Pseudomonas aeruginosa Homoserine lactone activates store-operated cAMP and cystic fibrosis transmembrane regulator-dependent Cl- secretion by human airway epithelia. ( Arant, RJ; Foskett, JK; Hofer, AM; Ianowski, JP; Illek, B; Isacoff, E; Machen, TE; Maiellaro, I; Matthes, E; Schwarzer, C; Shi, J; Vais, H; Wong, S, 2010)
"The lantibiotic duramycin (Moli1901, Lancovutide) has been suggested as a drug of choice in the treatment for cystic fibrosis (CF)."	7.76	Effect of duramycin on chloride transport and intracellular calcium concentration in cystic fibrosis and non-cystic fibrosis epithelia. ( Johannesson, M; Oliynyk, I; Roomans, GM; Varelogianni, G, 2010)
"To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT level and either 1) 2 CF gene (CFTR) mutations detected and sweat chloride level <60 mEq/L; or 2) 0 or 1 CFTR mutations and a "borderline" sweat chloride level >or=30 and <60 mEq/L."	7.73	Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. ( Comeau, AM; Parad, RB, 2005)
"To examine immunoreactive trypsinogen (IRT)-based screening for cystic fibrosis (CF) for recall rate, genotype distribution, and "borderline" sweat test results."	7.73	Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. ( Accurso, FJ; Hammond, KB; Sontag, MK; Wagener, JS; Zielenski, J, 2005)
"To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability."	7.73	Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. ( Accurso, FJ; Corey, M; Hokanson, JE; Marshall, JA; Sommer, SS; Sontag, MK; Zerbe, GO, 2006)
"It has been suggested that curcumin and other sarcoplasmic/endoplasmic reticulum Ca(2+)-pump inhibitors could correct the defect in the most common mutation (DeltaF508) in cystic fibrosis (CF), and restore normal chloride transport."	7.72	Curcumin does not stimulate cAMP-mediated chloride transport in cystic fibrosis airway epithelial cells. ( Björstad, J; Dragomir, A; Hjelte, L; Roomans, GM, 2004)
"Here we report the effects of gentamicin treatment on cystic fibrosis transmembrane regulator (CFTR) production and function in CF airway cells and patients with CF with premature stop mutations."	7.71	Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. ( Bebök, Z; Bedwell, DM; Clancy, JP; Greer, H; Hong, J; Jones, J; King, C; Lyrene, R; Macaluso, M; Ruiz, F; Sorscher, EJ; Walker, L; Wing, L, 2001)
"Previous studies have indicated that milrinone, a specific type III phosphodiesterase inhibitor, may be able to induce chloride secretion in cystic fibrosis (CF) tissues."	7.70	The in vivo effects of milrinone on the airways of cystic fibrosis mice and human subjects. ( Alton, EW; Bush, KA; Chadwick, S; Delaney, SJ; Farley, R; Geddes, DM; Jaffe, A; Middleton, PG; Rolleston, S; Smith, SN; Wainwright, B, 1999)
"The patch-clamp technique was used to investigate the effects of the isoflavone genistein on disease-causing mutations (G551D and DeltaF508) of the cystic fibrosis transmembrane conductance regulator (CFTR)."	7.70	Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein. ( Dong, JY; Fischer, H; Illek, B; Lewis, NC; Moss, RB; Zhang, L, 1999)
"Activation of the inositol cycle by a factor capable of by-passing the normal controls on exocrine secretion by an interaction with a coupling protein could produce effects similar to a calcium ionophore or the ciliary dyskinesia factor."	7.67	The end organ defect in cystic fibrosis; a hypothesis: disinhibited inositol cycle activation? ( van Woerkom, AE, 1987)
"Sweat reabsorption of bromide and chloride was studied in controls, obligate carriers of the cystic fibrosis gene, and individuals with cystic fibrosis."	7.67	Sweat bromide excretion in cystic fibrosis. ( Cosgriff, JM; Miller, ME; Schwartz, RH, 1986)
"A three day loading with sodium bromide was performed in 19 healthy controls, 16 definite cystic fibrosis heterozygotes, and 14 homozygote patients with cystic fibrosis."	7.67	Detection of cystic fibrosis heterozygotes using a modified loading with bromide. ( Gressmann, HW; Theile, H; Winiecki, P, 1985)
"The innervation of acini and ducts of eccrine sweat glands by immunoreactive, vasoactive intestinal peptide-containing nerve fibers was sharply reduced in seven patients with cystic fibrosis compared to eight normal subjects."	7.67	Deficient vasoactive intestinal peptide innervation in the sweat glands of cystic fibrosis patients. ( Dey, RD; Flux, M; Heinz-Erian, P; Said, SI, 1985)
"gentamicin) suppress nonsense mutations located in CFTR permitting translation to continue to the natural termination codon."	6.73	In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. ( Bidou, L; Bismuth, E; Davy, N; Edelman, A; Fajac, A; Lenoir, G; Lesure, JF; Parbaille, B; Pierrot, S; Reinert, P; Renouil, M; Rousset, JP; Sermet-Gaudelus, I, 2007)
"Cystic fibrosis is the most common life-limiting genetic condition in Caucasians caused by Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene mutations."	5.48	Effect of topiramate on sweat chloride level while screening for cystic fibrosis. ( Graff, G; Siddaiah, R; Thau, E, 2018)
"Cystic fibrosis is a common disease which has an associated characteristic symptom of high sweat chloride content."	5.39	Electrochemical detection of chloride levels in sweat using silver nanoparticles: a basis for the preliminary screening for cystic fibrosis. ( Batchelor-McAuley, C; Compton, RG; Toh, HS; Tschulik, K, 2013)
" A clear dose-response relationship was detected in all murine strains."	5.35	Lubiprostone activates non-CFTR-dependent respiratory epithelial chloride secretion in cystic fibrosis mice. ( Hawkins, CE; Henderson, MJ; MacDonald, KD; McKenzie, KR; Vij, N; Zeitlin, PL, 2008)
"A miglustat-based treatment of CF patients may thus have a beneficial effect both on Cl- and Na+ transports."	5.35	Parallel improvement of sodium and chloride transport defects by miglustat (n-butyldeoxynojyrimicin) in cystic fibrosis epithelial cells. ( Becq, F; Bot, AG; De Jonge, HR; Noël, S; Wilke, M, 2008)
"Hence these compounds may be useful to treat cystic fibrosis (CF) airway disease."	5.31	Chlorzoxazone or 1-EBIO increases Na(+) absorption across cystic fibrosis airway epithelial cells. ( Forman, HJ; Fuller, CM; Gao, L; Matalon, S; Sorscher, EJ; Venglarik, CJ; Yankaskas, JR, 2001)
"Ketoconazole treatment effectively reversed the cystic fibrosis defect in these cultured cells."	5.29	Ketoconazole activates Cl- conductance and blocks Cl- and fluid absorption by cultured cystic fibrosis (CFPAC-1) cells. ( Kersting, D; Kersting, U; Spring, KR, 1993)
"Although ataluren did not improve lung function in the overall population of nonsense-mutation cystic fibrosis patients who received this treatment, it might be beneficial for patients not taking chronic inhaled tobramycin."	5.19	Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. ( Accurso, FJ; Ajayi, T; Barth, J; Branstrom, A; Bronsveld, I; De Boeck, K; Elborn, JS; Elfring, GL; Fajac, I; Kerem, E; Knoop, C; Konstan, MW; Malfroot, A; McColley, SA; Melotti, P; Peltz, SW; Quattrucci, S; Rietschel, E; Rosenbluth, DB; Rowe, SM; Sermet-Gaudelus, I; Spiegel, RJ; Walker, PA; Welch, EM; Wilschanski, M; Zeitlin, PL, 2014)
"We provide evidence that combination lumacaftor and ivacaftor improves FEV1 for patients with cystic fibrosis who are homozygous for phe508del CFTR, with a modest effect on sweat chloride concentration."	5.19	A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. ( Bell, SC; Boyle, MP; Huang, X; Konstan, MW; McColley, SA; Patel, NR; Rietschel, E; Rodman, D; Rowe, SM; Waltz, D, 2014)
"Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF)."	5.19	Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation. ( Bona, G; Bossi, A; De Gregorio, F; De Rosa, G; De Stefano, D; Esposito, S; Grassia, R; Guido, S; Kroemer, G; Leone, CA; Maiuri, L; Maiuri, MC; Mehta, A; Pettoello-Mantovani, M; Pinna, LA; Raia, V; Salvadori, L; Sepe, A; Tosco, A; Venerando, A; Villella, VR; Zolin, A, 2014)
" Its direct inhibition by camostat represents a potential approach to inhibiting sodium transport in cystic fibrosis (CF)."	5.17	Reduced sodium transport with nasal administration of the prostasin inhibitor camostat in subjects with cystic fibrosis. ( Abbi, S; Clancy, JP; Danahay, H; Hathorne, H; Lock, R; Reeves, G; Renard, D; Rowe, SM; Solomon, GM; Waltz, DA; Zhou, P, 2013)
"Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis (CF) in patients ≥ 6 years of age who have a G551D mutation; however, the most prevalent disease-causing CFTR mutation, F508del, causes a different functional defect."	5.16	Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. ( Borowitz, DS; Flume, PA; Geller, DE; Li, H; Liou, TG; Ordoñez, CL; Yen, K, 2012)
"We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study)."	5.14	Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. ( Accurso, FJ; Aitken, ML; Ashlock, MA; Boyle, MP; Campbell, PW; Clancy, JP; Donaldson, SH; Dong, Q; Dunitz, JM; Durie, PR; Freedman, SD; Hornick, DB; Konstan, MW; Mayer-Hamblett, N; Moss, RB; Olson, ER; Ordoñez, CL; Pilewski, JM; Ramsey, BW; Rose, LM; Rowe, SM; Rubenstein, RC; Sagel, SD; Stone, AJ; Uluer, AZ; Zha, J, 2010)
"Lumacaftor/Ivacaftor (LUM-IVA), a cystic fibrosis transmembrane conductance regulator (CFTR) protein corrector-potentiator combination, improves lung function and reduces pulmonary exacerbations (PEx) in F508del homozygous CF patients."	4.12	Real life evaluation of the multi-organ effects of Lumacaftor/Ivacaftor on F508del homozygous cystic fibrosis patients. ( Ilivitzki, A; Khatib, M; Koren, I; Livnat, G; Schnapp, Z; Shorbaji, N; Shteinberg, M; Yaacoby-Bianu, K, 2022)
" Oral DRAinh-A250 and tenapanor comparably reduced signs of constipation in loperamide-treated mice, with additive effects found on coadministration."	3.88	SLC26A3 inhibitor identified in small molecule screen blocks colonic fluid absorption and reduces constipation. ( Cil, O; Haggie, PM; Lee, S; Phuan, PW; Rivera, AA; Tan, JA; Verkman, AS, 2018)
"The secretion of glucagon by islet α cells is normally suppressed by high blood glucose, but this suppressibility is impaired in patients with diabetes or cystic fibrosis (CF), a disease caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), a cyclic adenosine monophosphate-activated Cl- channel."	3.85	Glucose-Sensitive CFTR Suppresses Glucagon Secretion by Potentiating KATP Channels in Pancreatic Islet α Cells. ( Chan, HC; Chung, YW; Guo, JH; Huang, WQ; Ruan, YC; Yu, MK; Zhang, XH, 2017)
"Ambroxol, a mucokinetic anti-inflammatory drug, has been used for treatment of cystic fibrosis (CF)."	3.79	The effect of ambroxol on chloride transport, CFTR and ENaC in cystic fibrosis airway epithelial cells. ( Hussain, R; Johannesson, M; Oliynyk, I; Roomans, GM; Strid, H; Varelogianni, G, 2013)
"Twenty-one children receiving topiramate and 20 healthy controls with no signs or symptoms of pulmonary or gastrointestinal disease and a negative family history for cystic fibrosis (CF) underwent bilateral pilocarpine iontophoresis and sweat collection via Macroduct® system."	3.78	Elevated sweat chloride concentration in children without cystic fibrosis who are receiving topiramate therapy. ( Guglani, L; Kurland, G; Lower, D; Sitwat, B; Weiner, DJ, 2012)
"We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T/5T identified by California cystic fibrosis newborn screening."	3.78	Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. ( Keiles, S; Kharrazi, M; Koepke, R; Parad, R, 2012)
"The endogenous bronchodilator, S-nitrosoglutathione (GSNO), has been proposed as a possible pharmacological remedy that reverses the ΔF508-CFTR (cystic fibrosis transmembrane conductance regulator) maturation defect and increases CFTR-mediated chloride efflux in cultured cystic fibrosis airway epithelial cells (CFBE41o(-))."	3.77	The effect of S-nitrosoglutathione and L-cysteine on chloride efflux from cystic fibrosis airway epithelial cells. ( Dragomir, A; Gaston, B; Hjelte, L; Jiang, S; Roomans, GM; Servetnyk, Z, 2011)
" The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for CF."	3.77	Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. ( Desai, H; Dixon, M; Platt, M; Ren, CL, 2011)
"Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm."	3.76	Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. ( Comeau, AM; Dorkin, HL; Gerstle, R; Hale, JE; Lapey, A; O'Sullivan, BP; Parad, RB; Spencer, T; Yee, W, 2010)
" aeruginosa also infects the lungs of cystic fibrosis (CF) patients and secretes N-(3-oxo-dodecanoyl)-S-homoserine lactone (3O-C12) to regulate bacterial gene expression critical for P."	3.76	Pseudomonas aeruginosa Homoserine lactone activates store-operated cAMP and cystic fibrosis transmembrane regulator-dependent Cl- secretion by human airway epithelia. ( Arant, RJ; Foskett, JK; Hofer, AM; Ianowski, JP; Illek, B; Isacoff, E; Machen, TE; Maiellaro, I; Matthes, E; Schwarzer, C; Shi, J; Vais, H; Wong, S, 2010)
"The lantibiotic duramycin (Moli1901, Lancovutide) has been suggested as a drug of choice in the treatment for cystic fibrosis (CF)."	3.76	Effect of duramycin on chloride transport and intracellular calcium concentration in cystic fibrosis and non-cystic fibrosis epithelia. ( Johannesson, M; Oliynyk, I; Roomans, GM; Varelogianni, G, 2010)
"Quinine has been increasingly utilized as a placebo in cystic fibrosis (CF) clinical trials, including those leading to FDA approval of inhaled tobramycin, recent studies of anti-inflammatory aerosols such as glutathione, and clinical testing of hypertonic saline aerosols to augment mucous clearance."	3.74	Bioelectric effects of quinine on polarized airway epithelial cells. ( Alexander, M; Bates, E; Bebok, Z; Fortenberry, JA; Mazur, M; Miller, S; Rowe, SM; Sorscher, EJ, 2007)
"Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS)."	3.73	Sweat testing infants detected by cystic fibrosis newborn screening. ( Comeau, AM; Dorkin, HL; Dovey, M; Gerstle, R; Martin, T; O'Sullivan, BP; Parad, RB, 2005)
"To quantitate the proportion of infants identified through cystic fibrosis (CF) newborn screening (NBS) by an immunoreactive trypsinogen (IRT)/DNA screening algorithm who have an unclear diagnosis as defined by the findings of an elevated IRT level and either 1) 2 CF gene (CFTR) mutations detected and sweat chloride level <60 mEq/L; or 2) 0 or 1 CFTR mutations and a "borderline" sweat chloride level >or=30 and <60 mEq/L."	3.73	Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. ( Comeau, AM; Parad, RB, 2005)
"To examine immunoreactive trypsinogen (IRT)-based screening for cystic fibrosis (CF) for recall rate, genotype distribution, and "borderline" sweat test results."	3.73	Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. ( Accurso, FJ; Hammond, KB; Sontag, MK; Wagener, JS; Zielenski, J, 2005)
"To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability."	3.73	Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. ( Accurso, FJ; Corey, M; Hokanson, JE; Marshall, JA; Sommer, SS; Sontag, MK; Zerbe, GO, 2006)
"We investigated cystic fibrosis (CF) transmembrane conductance regulator (CFTR) regulation by A2 adenosine (Ado) receptors and beta2 adrenergic receptors in CFTR-corrected CFBE41o- airway cells and human subjects."	3.72	Activation of airway cl- secretion in human subjects by adenosine. ( Clancy, JP; Cobb, B; Eubanks-Tarn, V; Fan, L; Hentchel-Franks, K; Lozano, D; Oster, R; Sorscher, E, 2004)
"Colchicine has been proposed as a treatment to alleviate chronic lung inflammation in cystic fibrosis patients and clinical trials are ongoing."	3.72	Increased chloride efflux in colchicine-resistant airway epithelial cell lines. ( Dragomir, A; Roomans, GM, 2004)
"It has been suggested that curcumin and other sarcoplasmic/endoplasmic reticulum Ca(2+)-pump inhibitors could correct the defect in the most common mutation (DeltaF508) in cystic fibrosis (CF), and restore normal chloride transport."	3.72	Curcumin does not stimulate cAMP-mediated chloride transport in cystic fibrosis airway epithelial cells. ( Björstad, J; Dragomir, A; Hjelte, L; Roomans, GM, 2004)
"Here we report the effects of gentamicin treatment on cystic fibrosis transmembrane regulator (CFTR) production and function in CF airway cells and patients with CF with premature stop mutations."	3.71	Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. ( Bebök, Z; Bedwell, DM; Clancy, JP; Greer, H; Hong, J; Jones, J; King, C; Lyrene, R; Macaluso, M; Ruiz, F; Sorscher, EJ; Walker, L; Wing, L, 2001)
"We tested 39 patients with idiopathic chronic pancreatitis (mean age at diagnosis, 33 years) for common mutations of CFTR and of genes encoding a trypsin inhibitor (PSTI) and trypsinogen (PRSS1)."	3.71	Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. ( Cohn, JA; Jowell, PS; Knowles, MR; Noone, PG; Silverman, LM; Zhou, Z, 2001)
"Previous studies have indicated that milrinone, a specific type III phosphodiesterase inhibitor, may be able to induce chloride secretion in cystic fibrosis (CF) tissues."	3.70	The in vivo effects of milrinone on the airways of cystic fibrosis mice and human subjects. ( Alton, EW; Bush, KA; Chadwick, S; Delaney, SJ; Farley, R; Geddes, DM; Jaffe, A; Middleton, PG; Rolleston, S; Smith, SN; Wainwright, B, 1999)
"The patch-clamp technique was used to investigate the effects of the isoflavone genistein on disease-causing mutations (G551D and DeltaF508) of the cystic fibrosis transmembrane conductance regulator (CFTR)."	3.70	Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein. ( Dong, JY; Fischer, H; Illek, B; Lewis, NC; Moss, RB; Zhang, L, 1999)
"Rectal biopsies from cystic fibrosis (CF) patients show defective cAMP-activated Cl(-) secretion and an inverse response of the short-circuit current (I(sc)) toward stimulation with carbachol (CCh)."	3.70	Defective cholinergic Cl(-) secretion and detection of K(+) secretion in rectal biopsies from cystic fibrosis patients. ( Brandis, M; Greger, R; Kuehr, J; Kunzelmann, K; Mall, M; Seydewitz, HH; Wissner, A, 2000)
"The aims of this study were to investigate (a) if renal Na(+) handling was normal in Cftr(tm2cam) delta F508 cystic fibrosis mice, (b) whether adaptation to dietary salt depletion was preserved and (c) whether Cftr(tm2cam) delta F508 mice exhibited enhanced amiloride-sensitive Na(+) absorption."	3.70	Evidence for cystic fibrosis transmembrane conductance regulator-dependent sodium reabsorption in kidney, using Cftr(tm2cam) mice. ( Colledge, WH; Green, R; Kibble, JD; Neal, AM; Taylor, CJ, 2000)
"Cultured normal and cystic fibrosis (CF) airway epithelia were exposed to 5'-(N-ethylcarboxamido)-adenosine (NECA), ATP, or ionomycin."	3.69	Multiple modes of regulation of airway epithelial chloride secretion by extracellular ATP. ( Boucher, RC; Fitz, JG; Paradiso, AM; Stutts, MJ, 1994)
" In cells prelabeled with [3H]arachidonic acid, alpha 1-AR agents produced a biphasic DG generation in normal and cystic fibrosis (CF) cells that is blocked by pertussis toxin."	3.69	The role of protein kinase C in alpha-adrenergic regulation of NaCl(K) cotransport in human airway epithelial cells. ( Liedtke, CM, 1995)
"Cystic fibrosis jejunum had a significantly lower Na+ content, higher K+ and Cl- content, and higher potassium/phosphorus ratio in both villus and crypt regions."	3.69	X-ray microanalysis of cell elements in normal and cystic fibrosis jejunum: evidence for chloride secretion in villi. ( Bostrom, TE; Cockayne, DJ; Gaskin, KJ; Gyory, A; Hunt, DM; Hunter, D; O'Loughlin, EV, 1996)
" Epithelial cells were isolated from human nasal polyps, cultured for 5-7 days, and used to test the effect of anthracene 9-carboxylate (9-AC), known to inhibit Cl- conductance across the epithelial membrane, on the incorporation and desaturation of [1-14C]linoleic acid (C18:2,n-6) in experiments of up to 4 h duration."	3.68	The chloride channel blocker anthracene 9-carboxylate inhibits fatty acid incorporation into phospholipid in cultured human airway epithelial cells. ( Brown, NE; Clandinin, MT; Kang, JX; Labrecque, PA; Man, SF, 1992)
" isoproterenol) to activate a specific apical membrane chloride channel in epithelial cells is characteristic of cystic fibrosis (CF)."	3.68	Chloride ion transport in transformed normal and cystic fibrosis epithelial cells. ( Chin, L; Cozens, AL; Friend, DS; Gruenert, DC; Simon, EM; Yezzi, MJ, 1991)
"Activation of the inositol cycle by a factor capable of by-passing the normal controls on exocrine secretion by an interaction with a coupling protein could produce effects similar to a calcium ionophore or the ciliary dyskinesia factor."	3.67	The end organ defect in cystic fibrosis; a hypothesis: disinhibited inositol cycle activation? ( van Woerkom, AE, 1987)
"A four year regional screening programme to detect cystic fibrosis using measurement of immunoreactive trypsinogen is described."	3.67	Screening for cystic fibrosis: a four year regional experience. ( Black, A; Redmond, A; Roberts, G; Stanfield, M, 1988)
"Sweat tests were carried out on 14 patients with cystic fibrosis and 14 controls when on no antibiotics and when taking oral flucloxacillin."	3.67	Sweat tests and flucloxacillin. ( Green, A; Griffiths, PD; Weller, PH; Williams, J, 1988)
") for cystic fibrosis (CF) features a compact, portable configuration of electrodes that dispense pilocarpine for iontophoresis."	3.67	Evaluation of a cystic fibrosis screening system incorporating a miniature sweat stimulator and disposable chloride sensor. ( Brown, I; Cherian, AG; Duhon, G; Hill, JG; Huang, NN; Stejskal-Lorenz, E; Strominger, D; Waring, WW; Warwick, WJ; Yeung, WH, 1986)
"Sweat reabsorption of bromide and chloride was studied in controls, obligate carriers of the cystic fibrosis gene, and individuals with cystic fibrosis."	3.67	Sweat bromide excretion in cystic fibrosis. ( Cosgriff, JM; Miller, ME; Schwartz, RH, 1986)
"A three day loading with sodium bromide was performed in 19 healthy controls, 16 definite cystic fibrosis heterozygotes, and 14 homozygote patients with cystic fibrosis."	3.67	Detection of cystic fibrosis heterozygotes using a modified loading with bromide. ( Gressmann, HW; Theile, H; Winiecki, P, 1985)
"The innervation of acini and ducts of eccrine sweat glands by immunoreactive, vasoactive intestinal peptide-containing nerve fibers was sharply reduced in seven patients with cystic fibrosis compared to eight normal subjects."	3.67	Deficient vasoactive intestinal peptide innervation in the sweat glands of cystic fibrosis patients. ( Dey, RD; Flux, M; Heinz-Erian, P; Said, SI, 1985)
"The viscosity of gastric juice and the concentrations of sodium, potassium, calcium, magnesium and chloride ions were measured before and after stimulation with pentagastrin in 10 children with cystic fibrosis and compared to those in 10 healthy children of corresponding ages."	3.66	Viscosity and electrolyte concentrations in gastric juice from cystic fibrosis children compared to healthy children. ( Abiodun, P; Schmidt, KD; Tolckmitt, W, 1981)
"Cystic fibrosis is a severe monogenic disease that affects around 7 300 patients in France."	2.82	[Therapeutic advances in cystic fibrosis: from genetics to treatment personalized]. ( Durieu, I; Durupt, S; Reynaud, Q, 2022)
" Common adverse events in part B included cough (in 19 [56%] of 34 patients) and vomiting (in ten [29%])."	2.82	Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2-5 years with cystic fibrosis and a CFTR gating mutation (KIWI): an open-label, single-arm study. ( Cooke, J; Cunningham, S; Davies, JC; Green, Y; Harris, WT; Lapey, A; Regelmann, WE; Robertson, S; Rosenfeld, M; Sawicki, GS; Southern, KW, 2016)
" PTC124 is an orally bioavailable small molecule that is designed to induce ribosomes to selectively read through premature stop codons during mRNA translation, to produce functional CFTR."	2.73	Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. ( Armoni, S; Aviram, M; Blau, H; Cohen, M; Elfring, GL; Hirawat, S; Kerem, B; Kerem, E; Miller, LL; Nissim-Rafinia, M; Northcutt, VJ; Rivlin, J; Shoseyov, D; Wilschanski, M; Yaakov, Y, 2008)
"gentamicin) suppress nonsense mutations located in CFTR permitting translation to continue to the natural termination codon."	2.73	In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. ( Bidou, L; Bismuth, E; Davy, N; Edelman, A; Fajac, A; Lenoir, G; Lesure, JF; Parbaille, B; Pierrot, S; Reinert, P; Renouil, M; Rousset, JP; Sermet-Gaudelus, I, 2007)
"Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide."	2.72	Cystic fibrosis. ( Davies, JC; Haq, IJ; Polineni, D; Shteinberg, M, 2021)
" Efficacy was determined using nasal transepithelial potential difference and sweat chloride measurements prior to dosing and at 1, 2, and 4 hr postdose."	2.70	A phase I randomized, multicenter trial of CPX in adult subjects with mild cystic fibrosis. ( Ahrens, RC; Aitken, ML; Hilliard, KA; Kelley, TJ; Konstan, MW; Launspach, J; McCarty, NA; Milgram, LJ; Regelmann, WE; Standaert, TA; Teresi, M; Tuthill, C; Weatherly, MR, 2002)
" 4-Phenylbutyrate (Buphenyl), an orally bioavailable short chain fatty acid, modulates heat shock protein expression and restores maturation of the deltaF508 protein in vitro and in vivo."	2.70	Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. ( Boyle, MP; Brass-Ernst, L; Diener-West, M; Lee, CK; Rubenstein, RC; Zeitlin, PL, 2002)
" There were no adverse events."	2.69	Safety and biological efficacy of a lipid-CFTR complex for gene transfer in the nasal epithelium of adult patients with cystic fibrosis. ( Boucher, RC; Efthimiou, J; Foy, C; Gipson, C; Hohneker, KW; Johnson, LG; Jones, K; Knowles, MR; Leigh, MW; Noah, TL; Noone, PG; Pearlman, R; Schwartzbach, C; Zhou, Z, 2000)
"Cystic fibrosis is a monogenic disease that deranges multiple systems of ion transport in the airways, culminating in chronic infection and destruction of the lung."	2.68	A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. ( Edwards, LJ; Engelhardt, JF; Hohneker, KW; Hu, PC; Jones, KR; Knowles, MR; Leigh, MW; Noah, TL; Olsen, JC; Zhou, Z, 1995)
" Biopsies of the nasal epithelium taken 7 days after dosing were normal."	2.68	A placebo-controlled study of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis. ( Bilton, D; Colledge, WH; Cuthbert, AW; Evans, MJ; Gill, DR; Higgins, CF; Huang, L; Hyde, SC; Lane, DJ; Littlewood, JM; MacVinish, LJ; Middleton, PG; Mofford, KA; Ratcliff, R; Seddon, T; Sorgi, F; Southern, KW; Thomson, A; Webb, AK, 1997)
"Potentiator drugs used in the treatment of cystic fibrosis act on the channel to increase overall channel function, by increasing the stability of its open state and/or decreasing the stability of its closed state."	2.55	Structural Changes Fundamental to Gating of the Cystic Fibrosis Transmembrane Conductance Regulator Anion Channel Pore. ( Linsdell, P, 2017)
"Cystic fibrosis is responsible for severe chronic pulmonary disorders in children."	2.50	Cystic fibrosis: need for mass deployable screening methods. ( Agarwal, A; Sengar, AS; Singh, MK, 2014)
"To study dehydration related to the August 2003 heat wave in France in a cohort of adults with cystic fibrosis."	2.43	[Severe dehydration and August 2003 heat wave in a cohort of adults with cystic fibrosis]. ( Burgel, PR; Desmazes-Dufeu, N; Dusser, D; Hubert, D; Kanaan, R; Vélea, V, 2005)
"Cystic fibrosis is caused by mutations in the CFTR, resulting in impaired Cl(-) transport and plasma membrane targeting."	2.42	CFTR pharmacology and its role in intestinal fluid secretion. ( Thiagarajah, JR; Verkman, AS, 2003)
"Cystic fibrosis is a genetic disease occurring more frequently in Caucasians."	2.41	[Diagnosis and management of cystic fibrosis in children]. ( Clement, A; Fauroux, B; Tamalet, A, 2000)
"Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes the CFTR protein."	2.41	[Diagnosis of cystic fibrosis in adults]. ( Chinet, T; Fajac, I; Ferec, C; Garcia Carmona, T; Nguyen-Khoa, T, 2000)
"The basic defect in cystic fibrosis is the chloride impermeability of the plasmalemma in different cells."	2.38	[A flip-flop model of the chloride channel complex explains the dysregulation of the chloride flow in the plasmalemma of cells in cystic fibrosis]. ( Babel, D; Hein, A; Hilschmann, N; Jürgens, L; König, U; Schmid, A; Thinnes, FP, 1991)
"Metabolic alkalosis is defined as a primary increase in plasma bicarbonate concentration."	2.38	[Water-electrolyte and acid-base disorders. VII. Metabolic alkalosis]. ( Velásquez-Jones, L, 1990)
"In young adults with acute pancreatitis a wide etiologic spectrum has to be considered."	2.38	Relapsing pancreatitis as initial manifestation of cystic fibrosis in a young man without pulmonary disease. ( Denzel, K; Gerok, W; Gross, V; Schoelmerich, J, 1989)
"Cystic fibrosis is the most common fatal inherited disease of Caucasians."	2.37	Diagnosis and treatment of cystic fibrosis. An update. ( Davis, PB; di Sant'Agnese, PA, 1984)
"Cystic fibrosis is a severe monogenic disease that affects around 7400 patients in France."	1.91	CFTR pharmacological modulators: A great advance in cystic fibrosis management. ( Foucaud, P; Mercier, JC, 2023)
" Adverse events were generally mild and self-limited."	1.91	Elexacaftor/tezacaftor/ivacaftor-real-world clinical effectiveness and safety. A single-center Portuguese study. ( Azevedo, P; Bolas, R; Custódio, C; Lopes, C; Lopes, K, 2023)
"Pilocarpine was used at a concentration ∼130-times lower than that used in the classical Gibson and Cooke sweat test."	1.72	Needle-free iontophoresis-driven β-adrenergic sweat rate test. ( Frédérick, R; Gohy, S; Leal, T; Lebecque, P; Mottais, A; Reynaerts, A; Vanbever, R; Vermeulen, F, 2022)
" We report our experience of using sweat chloride and markers of clinical stability to titrate dose reduction with the aim of minimising adverse events and maintaining clinical stability."	1.72	Dose adjustments of Elexacaftor/Tezacaftor/Ivacaftor in response to mental health side effects in adults with cystic fibrosis. ( Clifton, IJ; Etherington, C; Gillgrass, L; Peckham, DG; Pollard, K; Shaw, N; Spoletini, G; Williams, E, 2022)
"Cystic fibrosis is a genetic disease caused by mutation of the CFTR gene, which encodes a chloride and bicarbonate transporter in epithelial cells."	1.72	Complementary Dual Approach for In Silico Target Identification of Potential Pharmaceutical Compounds in Cystic Fibrosis. ( Hafkemeyer, S; Nietert, MM; Stanke, F; Vinhoven, L, 2022)
"Cystic fibrosis is a genetic disorder that results in a multi-organ disease with progressive respiratory decline which leads to premature death."	1.62	Mesenchymal Stem Cell exosome delivered Zinc Finger Protein activation of cystic fibrosis transmembrane conductance regulator. ( Grepo, N; Jaffe, A; Morris, KV; Scott, T; Villamizar, O; Waters, SA, 2021)
"Pretreatment with diminazene aceturate, a small molecule with ability to inhibit acid detection through blockade of the acid-sensing ion channel (ASIC) at the doses provided, did not prevent acid-induced pathologic mucus or transport defects but did mitigate airway obstruction."	1.56	Acid exposure disrupts mucus secretion and impairs mucociliary transport in neonatal piglet airways. ( Atanasova, KR; Bravo, L; Collins, EN; Dadural, JS; Eken, E; Guevara, MV; Kuan, SP; Liao, YSJ; Reznikov, LR; Schurmann, V; Sponchiado, M; Vogt, K, 2020)
"Cystic fibrosis is the most common life-limiting genetic condition in Caucasians caused by Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene mutations."	1.48	Effect of topiramate on sweat chloride level while screening for cystic fibrosis. ( Graff, G; Siddaiah, R; Thau, E, 2018)
" In contrast, GLRX5 was positively modulated by [Cl-]i, showing a typical sigmoidal dose-response curve from 0-50 mM Cl-, reaching a plateau after 50 mM Cl- (EC50 ∼ 34 mM)."	1.43	The Chloride Anion Acts as a Second Messenger in Mammalian Cells - Modifying the Expression of Specific Genes. ( Clauzure, M; Massip-Copiz, M; Santa-Coloma, TA; Valdivieso, ÁG, 2016)
"Cases of bronchial asthma, diagnosed by GINA guideline 2008, and age matched healthy controls were included."	1.42	Higher sweat chloride levels in patients with asthma: a case-control study. ( Awasthi, S; Dixit, P; Maurya, N, 2015)
"Sensitivity and specificity were calculated as well as the means and coefficient of variation by test and by extremity."	1.40	A new method of sweat testing: the CF Quantum®sweat test. ( Eickhoff, J; Makholm, L; Rock, MJ, 2014)
"Because diagnosing cystic fibrosis is a combined effort between local pediatric departments, biochemical and genetic departments and cystic fibrosis centers, a national harmonization is necessary to assure correct clinical use."	1.40	Lack of harmonization in sweat testing for cystic fibrosis - a national survey. ( Christiansen, AL; Nybo, M, 2014)
"Cystic fibrosis is a common disease which has an associated characteristic symptom of high sweat chloride content."	1.39	Electrochemical detection of chloride levels in sweat using silver nanoparticles: a basis for the preliminary screening for cystic fibrosis. ( Batchelor-McAuley, C; Compton, RG; Toh, HS; Tschulik, K, 2013)
"Aquagenic palmoplantar keratoderma (APK) is a cutaneous phenomenon marked by the formation of edematous, translucent papules and plaques on the palms after water immersion."	1.39	[Aquagenic palmoplantar keratoderma in children with cystic fibrosis]. ( Chaillou, E; Chevalier, MC; Chiffoleau, M; Darviot, E; Giniès, JL; Martin, L; Pelatan, C; Troussier, F; Weil, B, 2013)
" A clinical trial performed to support ivacaftor dose selection demonstrated a dose-response relationship between improvement in FEV(1) and decrease in sweat chloride, a measure of CFTR function."	1.39	Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: the ivacaftor experience. ( Chowdhury, BA; Durmowicz, AG; Rosebraugh, CJ; Witzmann, KA, 2013)
"Initial extracellular dehydration leading to the diagnosis of CF is usual in infants but has only exceptionally been reported in adults."	1.36	Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults. ( Augusto, JF; Bonneau, D; Malinge, MC; Priou-Guesdon, M; Rodien, P; Rohmer, V; Subra, JF, 2010)
"Subclinical hypothyroidism has been linked to cystic fibrosis, and the cystic fibrosis transmembrane conductance regulator (CFTR) shown to be expressed in the thyroid."	1.36	Altered ion transport by thyroid epithelia from CFTR(-/-) pigs suggests mechanisms for hypothyroidism in cystic fibrosis. ( Fong, P; Ganta, S; Li, H, 2010)
"Cystic fibrosis is a chronic progressive autosomal recessive disorder caused by the CFTR gene mutations."	1.35	[Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea]. ( Ahn, KM; Cha, SI; Ki, CS; Kim, JH; Kim, SJ; Lee, M; Park, HY, 2008)
" A clear dose-response relationship was detected in all murine strains."	1.35	Lubiprostone activates non-CFTR-dependent respiratory epithelial chloride secretion in cystic fibrosis mice. ( Hawkins, CE; Henderson, MJ; MacDonald, KD; McKenzie, KR; Vij, N; Zeitlin, PL, 2008)
"Cystic fibrosis is usually diagnosed during the first years of life."	1.35	[The diagnosis of cystic fibrosis in adults: lessons from a family story]. ( Bienvenu, T; Burgel, PR; Coman, T; Desmazes-Dufeu, N; Dusser, D; Fajac, I; Hubert, D; Kanaan, R, 2009)
"Cystic fibrosis is a lethal autosomal recessive disorder usually associated with lung disease, pancreatic insufficiency and high sweat chloride levels."	1.35	Clinical and molecular characterization of S1118F-CFTR. ( Conoley, VG; Frederick, CA; Kappes, J; Li, C; Naren, AP; Nekkalapu, S; Penmatsa, H; Stokes, DC; Zhang, W, 2009)
" Here we describe the in vitro pharmacology of VX-770, an orally bioavailable CFTR potentiator in clinical development for the treatment of CF."	1.35	Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. ( Arumugam, V; Ashlock, M; Burton, B; Cao, D; Decker, C; Frizzell, RA; Grootenhuis, PD; Hadida, S; Hazlewood, A; Joubran, J; McCartney, J; Negulescu, P; Neuberger, T; Olson, ER; Singh, A; Turnbull, A; Van Goor, F; Wine, JJ; Yang, J; Young, C; Zhou, J, 2009)
"CF (cystic fibrosis) is a disease caused by mutations within the CFTR (CF transmembrane conductance regulator) gene."	1.35	Beta-oestradiol rescues DeltaF508CFTR functional expression in human cystic fibrosis airway CFBE41o- cells through the up-regulation of NHERF1. ( Cardone, RA; Casavola, V; De Santis, T; Fanelli, T; Favia, M; Guerra, L; Monterisi, S; Reshkin, SJ; Riccardi, SM; Zaccolo, M, 2008)
"A miglustat-based treatment of CF patients may thus have a beneficial effect both on Cl- and Na+ transports."	1.35	Parallel improvement of sodium and chloride transport defects by miglustat (n-butyldeoxynojyrimicin) in cystic fibrosis epithelial cells. ( Becq, F; Bot, AG; De Jonge, HR; Noël, S; Wilke, M, 2008)
"Hyponatremic hypochloremic dehydration with metabolic alkalosis is a rare but typical presentation of CF in infants."	1.35	Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis. ( Augusto, JF; Ducluzeau, PH; Illouz, F; Malinge, MC; Sayegh, J; Subra, JF, 2008)
"In sweat of 11 patients with G6PD deficiency we did not find any abnormality."	1.35	Sweat test in patients with glucose-6-phosphate-1-dehydrogenase deficiency. ( Barben, J; Casaulta, C; Schoeni, MH; Stirnimann, A, 2008)
" From a panel of short chain fatty acid derivatives, we showed that 2,2-dimethyl-butyrate (ST20) and alpha-methylhydrocinnamic acid (ST7), exhibiting high oral bioavailability and sustained plasma levels, correct the DeltaF508-CFTR defect."	1.33	Novel short chain fatty acids restore chloride secretion in cystic fibrosis. ( Kim, US; Nguyen, TD; Perrine, SP, 2006)
"Primary sclerosing cholangitis (PSC) and cystic fibrosis (CF) are both slowly progressive cholestatic liver diseases characterized by fibro-obliterative inflammation of the biliary tract."	1.32	Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. ( Bishop, MD; Chopra, S; Durie, PR; Freedman, SD; Malmberg, E; Regan, MM; Ricci, R; Shea, JC; Sheth, S; Tsui, LC; Walker, C; Zielenski, J, 2003)
"Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly variable clinical presentation."	1.31	Variant cystic fibrosis phenotypes in the absence of CFTR mutations. ( Cutting, GR; Groman, JD; Meyer, ME; Wilmott, RW; Zeitlin, PL, 2002)
"Cystic fibrosis is a heterogenic disease, in which the phenotype can also vary for patients with the same genotype."	1.31	Cystic fibrosis transmembrane conductance regulator (CFTR) activity in nasal epithelial cells from cystic fibrosis patients with severe genotypes. ( Andersson, C; Dragomir, A; Hjelte, L; Roomans, GM, 2002)
"Hence these compounds may be useful to treat cystic fibrosis (CF) airway disease."	1.31	Chlorzoxazone or 1-EBIO increases Na(+) absorption across cystic fibrosis airway epithelial cells. ( Forman, HJ; Fuller, CM; Gao, L; Matalon, S; Sorscher, EJ; Venglarik, CJ; Yankaskas, JR, 2001)
"Methoxsalen failed to increase I(sc)."	1.30	Psoralens: novel modulators of Cl- secretion. ( Bridges, RJ; Devor, DC; Frizzell, RA; Singh, AK, 1997)
" However, for all the current viral and nonviral vectors used to deliver the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the duration of CFTR expression is limited, necessitating a repeat dosing regimen to provide a long-term treatment."	1.30	A second dose of a CFTR cDNA-liposome complex is as effective as the first dose in restoring cAMP-dependent chloride secretion to null CF mice trachea. ( Anderson, JR; Brown, S; Colledge, WH; Cuthbert, AW; Evans, MJ; Gill, DR; Glenn, E; Goddard, CA; Higgins, CF; Huang, L; Hyde, SC; MacVinish, LJ; Ratcliff, R, 1997)
"Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel, which mediates transepithelial Cl- transport in a variety of epithelia, including airway, intestine, pancreas, and sweat duct."	1.30	Exocytosis is not involved in activation of Cl- secretion via CFTR in Calu-3 airway epithelial cells. ( Loffing, J; McCoy, D; Moyer, BD; Stanton, BA, 1998)
"Brefeldin A (BFA) was used to perturb glycoprotein targeting in these cells."	1.29	Polarization-dependent apical membrane CFTR targeting underlies cAMP-stimulated Cl- secretion in epithelial cells. ( Benos, DJ; Cunningham, SA; Frizzell, RA; Morris, AP; Tousson, A, 1994)
" We investigated this discrepancy between the in vivo and in vitro transfer efficiency using CF mouse and human samples, and found that it reflects a difference in the susceptibility to adenovirus-5 transduction of the epithelial cell types dosed in vivo (columnar) and in vitro (basal-cell-like)."	1.29	Inefficient gene transfer by adenovirus vector to cystic fibrosis airway epithelia of mice and humans. ( Boucher, RC; Engelhardt, JF; Grubb, BR; Johnson, LG; Pickles, RJ; Vick, RN; Wilson, JM; Yankaskas, JR; Ye, H, 1994)
"Cystic fibrosis is an autosomal recessive disorder affecting chloride transport in pancreas, lung, and other tissues, which is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR)."	1.29	A1 receptor antagonist 8-cyclopentyl-1,3-dipropylxanthine selectively activates chloride efflux from human epithelial and mouse fibroblast cell lines expressing the cystic fibrosis transmembrane regulator delta F508 mutation. ( Barnoy, S; Cabantchik, ZI; Eidelman, O; Guay-Broder, C; Guggino, WB; Jacobson, KA; Pollard, HB; Turner, RJ; Vergara, L; Zeitlin, PL, 1995)
"Cystic fibrosis is a disease characterized by abnormalities in the epithelia of the lungs, intestine, salivary and sweat glands, liver, and reproductive systems, often as a result of inadequate hydration of their secretions."	1.29	Impaired cell volume regulation in intestinal crypt epithelia of cystic fibrosis mice. ( Colledge, WH; Evans, MJ; O'Brien, JA; Ratcliff, RA; Sepúlveda, FV; Valverde, MA, 1995)
" ATP dose-response experiments, taken together with the effect of cAMP with and without ATP, suggest that phosphorylation is necessary, but not sufficient, for activation."	1.29	Regulation of CFTR Cl- conductance in secretion by cellular energy levels. ( Bell, CL; Quinton, PM, 1993)
"Ketoconazole treatment effectively reversed the cystic fibrosis defect in these cultured cells."	1.29	Ketoconazole activates Cl- conductance and blocks Cl- and fluid absorption by cultured cystic fibrosis (CFPAC-1) cells. ( Kersting, D; Kersting, U; Spring, KR, 1993)
"Cystic fibrosis is caused by mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR)."	1.28	Localization of cystic fibrosis transmembrane conductance regulator in chloride secretory epithelia. ( Cheng, SH; Denning, GM; Ostedgaard, LS; Smith, AE; Welsh, MJ, 1992)
"Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), which lead to defective Cl- conductance in epithelial cells."	1.28	The cystic fibrosis transmembrane regulator is present and functional in endosomes. Role as a determinant of endosomal pH. ( Chang, XB; Grinstein, S; Kartner, N; Lukacs, GL; Riordan, JR; Rotstein, OD, 1992)
"Cystic fibrosis is characterized by abnormal electrolyte transport across the epithelia of the airways."	1.28	Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis. ( Boucher, RC; Clarke, LL; Knowles, MR, 1991)
"Adults with cystic fibrosis have significantly increased sweat electrolyte concentrations (90-120 mmol/l)."	1.28	[Reference values of Na(+) and Cl(-) concentrations in adult sweat]. ( Ferner, S; Heilmann, W; Koszmagk, R; Lehmann, A, 1990)
"A higher incidence of premature labor is noted and all patients are best managed in tertiary referral centers."	1.27	Diagnosis of maternal cystic fibrosis during pregnancy. ( Hanson, R; Johnson, SR; Varner, MW; Yates, SJ, 1983)
"Cystic fibrosis is the most common fatal genetic disease affecting caucasians and is perhaps best characterized as an exocrinopathy involving a disturbance in fluid and electrolyte transport."	1.27	Chloride impermeability in cystic fibrosis. ( Quinton, PM, 1983)
"Patients with cystic fibrosis have characteristic disturbances in the electrolyte composition of their sweat, saliva, and pancreatic secretions."	1.27	Higher bioelectric potentials due to decreased chloride absorption in the sweat glands of patients with cystic fibrosis. ( Bijman, J; Quinton, PM, 1983)
"Amiloride was more efficacious in the CF subjects but the ED50 was not different from that of normals (approximately 2 X 10(-6) M)."	1.27	Relative ion permeability of normal and cystic fibrosis nasal epithelium. ( Boucher, R; Gatzy, J; Knowles, M, 1983)
"This case of Munchausen syndrome by proxy highlights the extent to which the diagnosis of cystic fibrosis rests on reliable history and laboratory data and emphasizes the extremes to which perpetrators of this form of child abuse may go to make their case."	1.27	Munchausen syndrome by proxy simulating cystic fibrosis. ( Orenstein, DM; Wasserman, AL, 1986)
"Patients with Bartter's syndrome treated with PG synthetase inhibitors for 1 week respond with a profound drop in renin, together with a rise in prorenin."	1.26	Plasma "prorenin"-renin in Bartter's syndrome, cystic fibrosis, and chloride deficiency, and the effect of prostaglandin synthetase inhibition. ( Balfe, JW; Chan, LL; Halperin, ML; Osmond, DH, 1981)
"Two patients were diagnosed as having acute pancreatitis before the diagnosis of CF was made, thus indicating that acute pancreatitis may be the presenting complaint in the young adult with CF."	1.25	Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. ( Khaw, KT; Lebenthal, E; Shwachman, H, 1975)

Research

Studies (1,327)

Authors

Clinical Trials (46)

Trial Overview

Trial Outcomes

Absolute Change in BMI Z-score for Participants <=20 Years of Age at Baseline

Timeframe	Studies, this research(%)	All Research%
pre-1990	353 (26.60)	18.7374
1990's	351 (26.45)	18.2507
2000's	268 (20.20)	29.6817
2010's	257 (19.37)	24.3611
2020's	98 (7.39)	2.80

Authors	Studies
Reynaerts, A	2
Vermeulen, F	7
Mottais, A	1
Gohy, S	2
Lebecque, P	9
Frédérick, R	1
Vanbever, R	1
Leal, T	13
Maguire, B	1
Blake, O	1
Boran, G	1
Borovickova, I	1
Abdelfadil, S	1
Murray, C	1
Elnazir, B	1
Linnane, B	1
Larsen, MB	1
Choi, JJ	1
Wang, X	4
Myerburg, MM	2
Frizzell, RA	20
Bertrand, CA	1
Pallenberg, ST	1
Junge, S	2
Ringshausen, FC	1
Sauer-Heilborn, A	1
Hansen, G	1
Dittrich, AM	1
Tümmler, B	19
Nietert, M	1
Noel, S	3
Servel, N	1
Hatton, A	5
Golec, A	2
Rodrat, M	1
Ng, DRS	1
Li, H	3
Pranke, I	3
Hinzpeter, A	2
Edelman, A	13
Sheppard, DN	7
Sermet-Gaudelus, I	19
Gonska, T	11
Keenan, K	2
Au, J	1
Dupuis, A	4
Chilvers, MA	1
Burgess, C	1
Bjornson, C	1
Fairservice, L	1
Brusky, J	1
Kherani, T	1
Jober, A	1
Kosteniuk, L	1
Price, A	1
Itterman, J	1
Morgan, L	1
Mateos-Corral, D	1
Hughes, D	1
Donnelly, C	1
Smith, MJ	1
Iqbal, S	1
Arpin, J	1
Reisman, J	1
Hammel, J	1
van Wylick, R	1
Derynck, M	1
Henderson, N	1
Solomon, M	4
Ratjen, F	3
Bijvelds, MJC	1
Roos, FJM	1
Meijsen, KF	1
Roest, HP	1
Verstegen, MMA	1
Janssens, HM	5
van der Laan, LJW	1
de Jonge, HR	24
Ferrera, L	1
Cappiello, F	1
Loffredo, MR	1
Puglisi, E	1
Casciaro, B	1
Botta, B	1
Galietta, LJV	2
Mori, M	1
Mangoni, ML	1
Cirilli, N	5
Southern, KW	5
Barben, J	6
Munck, A	10
Wilschanski, M	16
Nguyen-Khoa, T	7
Aralica, M	1
Simmonds, NJ	3
De Wachter, E	3
Chen, B	1
Jefferson, DM	4
Cho, WK	1
Ramalho, AS	3
Boon, M	1
Proesmans, M	1
Carlon, MS	3
Boeck, K	1
Wang, G	8
Nauseef, WM	4
Pankonien, I	1
Quaresma, MC	1
Rodrigues, CS	1
Amaral, MD	7
Stapleton, AL	1
Kimple, AJ	1
Goralski, JL	2
Nouraie, SM	1
Branstetter, BF	1
Shaffer, AD	1
Pilewski, JM	3
Senior, BA	1
Lee, SE	1
Zemke, AC	1
Raraigh, KS	5
Paul, KC	2
Worthington, EN	1
Faino, AV	1
Sciortino, S	1
Wang, Y	4
Aksit, MA	2
Ling, H	1
Osorio, DL	2
Onchiri, FM	1
Patel, SU	2
Merlo, CA	2
Montemayor, K	1
Gibson, RL	1
West, NE	2
Thakerar, A	1
Bridges, RJ	5
Sharma, N	3
Cutting, GR	12
da Cunha, MF	2
Sassi, A	1
Schreiweis, C	1
Moriceau, S	1
Vidovic, D	2
Creste, G	1
Berhal, F	1
Prestat, G	1
Freund, R	1
Odolczyk, N	1
Jais, JP	2
Gravier-Pelletier, C	1
Zielenkiewicz, P	1
Jullien, V	1
Oury, F	1
Wong, SL	1
Awatade, NT	1
Astore, MA	1
Allan, KM	1
Carnell, MJ	1
Slapetova, I	1
Chen, PC	1
Setiadi, J	1
Pandzic, E	1
Fawcett, LK	1
Widger, JR	1
Whan, RM	1
Griffith, R	1
Ooi, CY	1
Kuyucak, S	1
Jaffe, A	6
Waters, SA	2
Ampuero Acuña, C	1
Tomarelli Rubio, G	1
Montes Franceschini, S	1
Donoso Fuentes, A	1
Kelly, M	1
Dreano, E	1
Lepissier, A	1
Mathiaparanam, S	1
de Macedo, AN	1
Gill, B	1
Pedder, L	1
Hill, S	1
Britz-McKibbin, P	1
Spoletini, G	1
Gillgrass, L	1
Pollard, K	1
Shaw, N	1
Williams, E	1
Etherington, C	1
Clifton, IJ	1
Peckham, DG	1
Welsner, M	1
Schulte, T	1
Dietz-Terjung, S	1
Weinreich, G	1
Stehling, F	1
Taube, C	1
Strassburg, S	1
Schoebel, C	1
Sutharsan, S	2
Phadke, MY	1
Sellers, ZM	2
Saint-Criq, V	3
Guequén, A	1
Philp, AR	1
Villanueva, S	1
Apablaza, T	1
Fernández-Moncada, I	1
Mansilla, A	1
Delpiano, L	2
Ruminot, I	1
Carrasco, C	1
Gray, MA	9
Flores, CA	1
Huguet, F	2
Guellec, J	1
Kerbiriou, M	3
Gandy, M	1
Thomas, J	4
Férec, C	6
Benz, N	3
Trouvé, P	3
Drummond, D	1
Aoust, L	1
Schlatter, J	1
Martin, C	1
Ramel, S	1
Kiefer, S	1
Gachelin, E	1
Stremler, N	2
Cosson, L	1
Gabsi, A	1
Remus, N	2
Benhamida, M	1
Hadchouel, A	1
Fajac, I	13
Girodon, E	7
Mayer-Hamblett, N	6
Zemanick, ET	2
Odem-Davis, K	2
VanDevanter, D	1
Warden, M	1
Rowe, SM	22
Young, J	1
Konstan, MW	11
Sinha, M	1
Zabini, D	1
Guntur, D	1
Nagaraj, C	1
Enyedi, P	1
Olschewski, H	1
Kuebler, WM	1
Olschewski, A	1
Kumar, PA	1
Pradeep, A	1
Nair, BKG	1
Babu, TGS	1
Suneesh, PV	1
Burat, B	1
Baiwir, D	1
Fléron, M	1
Eppe, G	1
Mazzucchelli, G	1
Sahoo, N	1
Dhochak, N	1
Jat, KR	1
Sankar, J	1
Lodha, R	1
Sethuraman, G	1
Kabra, M	1
Kabra, SK	2
Ozsin-Ozler, C	1
Duruel, O	1
Pinar, A	1
Özbek, B	1
Yaz, İ	1
Ataman-Duruel, ET	1
Uzamis-Tekcicek, M	1
Gunes-Yalcın, E	1
Dogru-Ersoz, D	1
Kiper, N	3
Tezcan, İ	1
Berker, E	1
Jaboreck, MC	1
Lühmann, JL	1
Mielenz, M	1
Stanke, F	9
Göhring, G	1
Martin, U	1
Olmer, R	1
Merkert, S	1
Escudero-Ávila, R	1
Delgado-Pecellín, C	1
Moreno-Valera, MJ	1
Carrasco-Hernández, L	1
Quintana-Gallego, ME	1
Delgado-Pecellín, I	1
Ludovico, A	2
Moran, O	3
Baroni, D	2
Berke, G	1
Gede, N	1
Szadai, L	1
Ocskay, K	1
Hegyi, P	2
Sahin-Tóth, M	1
Hegyi, E	1
Zhang, S	4
Shrestha, CL	1
Robledo-Avila, F	1
Jaganathan, D	1
Wisniewski, BL	1
Brown, N	1
Pham, H	1
Carey, K	1
Amer, AO	1
Hall-Stoodley, L	1
McCoy, KS	2
Bai, S	1
Partida-Sanchez, S	1
Kopp, BT	1
Cho, DY	1
Grayson, JW	1
Woodworth, BA	3
Yaacoby-Bianu, K	2
Schnapp, Z	1
Koren, I	1
Ilivitzki, A	1
Khatib, M	1
Shorbaji, N	1
Shteinberg, M	4
Livnat, G	3
Scull, CE	1
Luo, M	4
Jennings, S	1
Taylor, CM	1
Vinhoven, L	1
Hafkemeyer, S	1
Nietert, MM	1
Rodenburg, LW	1
Railean, V	1
Centeio, R	1
Pinto, MC	1
Smits, SMA	1
van der Windt, IS	1
van Hugten, CFJ	1
van Beuningen, SFB	1
Rodenburg, RNP	1
van der Ent, CK	6
Kunzelmann, K	27
Beekman, JM	6
Amatngalim, GD	1
Dagan, A	1
Heching, M	1
Shmueli, E	1
Prais, D	2
Stein, N	1
Mei-Zahav, M	1
Gur, M	1
Cohen-Cymberknoh, M	1
Foucaud, P	2
Mercier, JC	2
Reynaud, Q	2
Durupt, S	3
Durieu, I	5
Salinas, DB	1
Ginsburg, DK	1
Wee, CP	1
Saeed, MM	1
Brewington, JJ	1
Zeng, ZW	1
Linsdell, P	8
Pomès, R	1
Lopes, K	1
Custódio, C	1
Lopes, C	1
Bolas, R	1
Azevedo, P	1
la Grasta, A	1
De Carlo, M	1
Di Nisio, A	1
Dell'Olio, F	1
Passaro, VMN	1
Bedran, RM	1
Alvim, CG	1
Sader, OG	1
Alves Júnior, JV	1
Pereira, FH	1
Nolasco, DM	1
Zhang, L	5
Camargos, P	1
Levring, J	1
Terry, DS	1
Kilic, Z	1
Fitzgerald, G	1
Blanchard, SC	1
Chen, J	5
Ranjous, Y	1
Al Balkhi, A	1
Alahmad, N	1
Asaad, A	1
Ali, A	1
Terlizzi, V	3
Dolce, D	1
Alexopoulos, A	1
Chouliaras, G	1
Kakourou, T	1
Dakoutrou, M	1
Petrocheilou, A	1
Nasi, L	1
Thanopoulou, I	1
Siahanidou, S	1
Kanaka-Gantenbein, C	1
Kontara, L	1
Michos, A	1
Loukou, I	1
Rock, MJ	7
Baker, M	2
Farrell, PM	14
Mohan, M	1
Mannil, A	1
Chandrasekaran, V	1
Gulati, R	1
Ganapathy, S	1
Nair, S	1
Lei, L	1
Traore, S	1
Romano Ibarra, GS	1
Karp, PH	10
Rehman, T	1
Meyerholz, DK	2
Zabner, J	16
Stoltz, DA	3
Sinn, PL	2
Welsh, MJ	36
McCray, PB	7
Thornell, IM	2
Illek, B	8
Fischer, H	6
Machen, TE	4
Hari, G	2
Clemons, KV	1
Sass, G	1
Ferreira, JAG	1
Stevens, DA	1
Omosule, CL	1
Dietzen, DJ	2
Roper, SM	1
Taghizadeh-Behbahani, M	1
Hemmateenejad, B	1
Shamsipur, M	1
Tavassoli, A	1
Jang, JH	1
Panariti, A	1
O'Sullivan, MJ	1
Pyrch, M	1
Wong, C	1
Lauzon, AM	1
Martin, JG	1
Middleton, PG	12
Mall, MA	8
Dřevínek, P	1
Lands, LC	2
McKone, EF	6
Polineni, D	3
Ramsey, BW	6
Taylor-Cousar, JL	5
Tullis, E	7
Marigowda, G	2
McKee, CM	3
Moskowitz, SM	4
Nair, N	1
Savage, J	2
Simard, C	3
Tian, S	2
Waltz, D	5
Xuan, F	4
Jain, R	1
Kyrilli, S	1
Henry, T	1
Davies, JC	7
Procianoy, EDFA	1
de Abreu E Silva, FA	1
Maróstica, PJC	1
Quinton, PM	22
Zhou, Z	7
Alvarez, D	1
Milla, C	2
Zare, RN	1
Secunda, KE	1
Guimbellot, JS	1
Jovanovic, B	1
Heltshe, SL	4
Sagel, SD	2
Jain, M	2
Bourmaud, A	1
Bellon, G	3
Picq, P	1
Luan, X	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
Symptom Based Performance of Airway Clearance Therapy After Starting Highly Effective CFTR Modulator Therapy for Cystic Fibrosis[NCT05392855]		30 participants (Anticipated)	Interventional	2023-09-05	Recruiting
A Phase 3, Randomized, Double-blind, Controlled Study Evaluating the Efficacy and Safety of VX-445 Combination Therapy in Subjects With Cystic Fibrosis Who Are Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)[NCT03525444]	Phase 3	405 participants (Actual)	Interventional	2018-06-15	Completed
TAAI Erasmus Research Initiative to Fight CF: Monitoring Inflammation in CF Lung Disease Into a New Era[NCT05752019]		100 participants (Anticipated)	Observational	2022-03-21	Active, not recruiting
Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)[NCT02869932]		130 participants (Actual)	Interventional	2012-03-31	Completed
Development a Core Set for Adults With Cystic Fibrosis Based on the International Classification of Functioning, Disability, and Health (ICF)[NCT06128499]		30 participants (Anticipated)	Observational	2023-12-20	Not yet recruiting
A Phase 3, Randomized, Double-blind, Controlled Study Evaluating the Efficacy and Safety of VX-445 Combination Therapy in Subjects With Cystic Fibrosis Who Are Heterozygous for the F508del Mutation and a Gating or Residual Function Mutation (F/G and F/RF [NCT04058353]	Phase 3	271 participants (Actual)	Interventional	2019-08-28	Completed
A New Optical Sweat Test Method Based on a Citric Acid-derived Multi-halide Sensor[NCT03367494]		25 participants (Actual)	Interventional	2018-03-01	Terminated (stopped due to Investigator Decision)
Effect of the CFTR-modulating Triple Therapy Elexacaftor - Tezacaftor - Ivacaftor on Numerical Distribution in Peripheral Mononuclear Immune Cells Derived From Patients With Cystic Fibrosis[NCT05576324]		130 participants (Anticipated)	Observational	2020-12-30	Recruiting
A Phase 1/2 Study of VX-445 in Healthy Subjects and Subjects With Cystic Fibrosis[NCT03227471]	Phase 1/Phase 2	225 participants (Actual)	Interventional	2017-01-23	Completed
A Phase 1, Randomized, Double Blind, Placebo Controlled, Dose Escalation, and Bioavailability Study Evaluating the Safety and Pharmacokinetics of VX-659 in Healthy Subjects and in Subjects With Cystic Fibrosis[NCT03029455]	Phase 1	163 participants (Actual)	Interventional	2016-11-30	Completed
A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX-659 Combination Therapy in Subjects Aged 18 Years and Older With Cystic Fibrosis[NCT03224351]	Phase 2	124 participants (Actual)	Interventional	2017-08-08	Completed
Baby Observational and Nutritional Study (BONUS)[NCT01424696]		231 participants (Actual)	Observational	2011-12-31	Completed
Randomized, Double-blind, Placebo-controlled, Multicenter, Multi-arm, Phase II Trial of Novel Agents for the Treatment of Mild to Moderate COVID-19 Positive Outpatients[NCT04530617]	Phase 2	246 participants (Actual)	Interventional	2020-10-05	Terminated (stopped due to Results from the interim analysis)
A Two-part, Randomized, Double-blind, Placebo-controlled, Ascending Single-dose, Adaptive Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of QAU145 Administered Via a Nasal Spray Pump to Patients With Cystic Fibrosis[NCT00506792]	Phase 2	9 participants (Actual)	Interventional	2007-07-31	Completed
A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Study of VX-770 to Evaluate Safety, Pharmacokinetics, and Biomarkers of CFTR Activity in Cystic Fibrosis (CF) Subjects With Genotype G551D[NCT00457821]	Phase 2	39 participants (Actual)	Interventional	2007-05-31	Completed
A Phase 3 Efficacy and Safety Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Cystic Fibrosis[NCT00803205]	Phase 3	238 participants (Actual)	Interventional	2009-09-08	Completed
Personalized Therapy of Cystic Fibrosis: Set-up of Response Markers[NCT02965326]		75 participants (Anticipated)	Interventional	2016-05-31	Recruiting
A Phase 2, Multicenter, Double-Blinded, Placebo-Controlled, Multiple-Dose Study to Evaluate Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Lumacaftor Monotherapy, and Lumacaftor and Ivacaftor Combination Therapy in Subjects With[NCT01225211]	Phase 2	312 participants (Actual)	Interventional	2010-10-31	Completed
Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study[NCT02704455]		100 participants (Anticipated)	Observational	2016-05-31	Not yet recruiting
A Phase 3, 2-Part, Open-Label Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Ivacaftor in Subjects With Cystic Fibrosis Who Are 2 Through 5 Years of Age and Have a CFTR Gating Mutation[NCT01705145]	Phase 3	35 participants (Actual)	Interventional	2013-01-31	Completed
Gene Modifiers of Cystic Fibrosis Lung Disease[NCT00037765]		600 participants (Anticipated)	Observational	2001-09-30	Active, not recruiting
Short Term Effects of Ivacaftor in Non-G551D Cystic Fibrosis Patients[NCT01784419]		10 participants (Actual)	Interventional	2013-10-31	Completed
COVID-19 Antibody Responses In Cystic Fibrosis[NCT04904445]		40 participants (Anticipated)	Observational	2021-05-21	Active, not recruiting
A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Cystic Fibrosis[NCT00237380]	Phase 2	24 participants (Actual)	Interventional	2005-11-30	Completed
Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-protocol is Identical to Study No. 0519-10-TLV- Minors' Adjusted Version[NCT02354560]	Phase 4	15 participants (Anticipated)	Interventional	2015-06-30	Not yet recruiting
Assessing Target Engagement of Terazosin in Healthy Adults[NCT04551040]	Phase 1	18 participants (Anticipated)	Interventional	2021-03-26	Active, not recruiting
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Two-Part Trial to Evaluate the Efficacy, Safety, and Tolerability of iOWH032 in the Treatment of Acute Dehydrating Diarrhea in Adult and Pediatric Patients With Cholera[NCT02111304]	Phase 2	0 participants (Actual)	Interventional	2014-06-30	Withdrawn (stopped due to Trial was never initiated due to PATH executive decision.)
Nutritional Impact of Ivacaftor Treatment in 4 Month to 2 Year Old Children With CF Gating Mutations[NCT03783286]		15 participants (Actual)	Observational	2019-02-06	Completed
Nutritional Impact of Orkambi Treatment in 2 to 5 Year Old Children Homozygous for F508del Mutations[NCT03795363]		28 participants (Actual)	Observational	2019-04-10	Completed
Cystic Fibrosis Related Bone Disease: the Role of CFTR[NCT01549314]		79 participants (Actual)	Observational	2012-04-30	Completed
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Safety and Efficacy of VX-770 in Subjects Aged 12 Years and Older With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation[NCT00953706]	Phase 2	140 participants (Actual)	Interventional	2009-09-30	Terminated (stopped due to Following review of results obtained from a pre-specified 6-month analysis of Part B data the study was terminated on the basis of futility.)
A Phase 3, International, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Efficacy and Safety Study of Denufosol Tetrasodium Inhalation Solution in Patients With Cystic Fibrosis Lung Disease and FEV1 Greater Than or Equal to 75[NCT00625612]	Phase 3	466 participants (Actual)	Interventional	2008-02-29	Completed
A Comparative, Multicenter and Randomized Study Evaluating the Safety and Efficacy of RESPIMER® Netiflow® Versus Saline Solutions During Nasal Irrigation Following Bilateral Ethmoidectomy in the Treatment of Nasal Polyposis.[NCT02559284]		189 participants (Actual)	Interventional	2015-04-30	Completed
Sun Yat-sen Memorial Hospital[NCT02985346]	Early Phase 1	100 participants (Anticipated)	Interventional	2017-01-31	Not yet recruiting
Phase II Study of the Effects of Sildenafil on CFTR-dependent Ion Transport Activity[NCT01132482]	Phase 2	19 participants (Actual)	Interventional	2015-10-31	Completed
Does a Nasal Instillation of Vardenafil Normalize the Nasal Potential Difference in Cystic Fibrosis Patients Homozygous for the F508del Mutation? A Randomized, Double Blind, Placebo-controlled Study.[NCT01002534]	Phase 2	5 participants (Actual)	Interventional	2011-10-31	Terminated (stopped due to not yet started)
Evaluation and Treatment of Pulmonary Vascular Disease in Moderate to Severe Cystic Fibrosis Lung Disease[NCT02626182]	Phase 1/Phase 2	14 participants (Actual)	Interventional	2015-12-31	Completed
Does a Nasal Instillation of Miglustat Normalize the Nasal Potential Difference in Cystic Fibrosis Patients Homozygous for the F508del Mutation? A Randomized, Double Blind Placebo-controlled Study.[NCT00945347]	Phase 2	10 participants (Anticipated)	Interventional	2009-07-31	Completed
Efficacy of Antibiotic (Tobramycin) Delivered by Nebulized Sonic Aerosol for Chronic Rhinosinusitis Treatment of Cystic Fibrosis Patients: A Multicenter Double-blind Randomized Controlled Trial[NCT02888730]	Phase 3	86 participants (Actual)	Interventional	2017-02-16	Terminated (stopped due to No suffisant recruitment)
Phase II Study: LYM-X-SORB™, an Organized Lipid Matrix: Fatty Acids and Choline in CF[NCT00406536]	Phase 2	110 participants (Actual)	Interventional	2007-01-31	Completed
Evaluation of Safety and Gene Expression With a Single Dose of pGM169/GL67A Administered to the Nose and Lung of Individuals With Cystic Fibrosis[NCT00789867]	Phase 1/Phase 2	35 participants (Actual)	Interventional	2008-11-30	Completed
A Randomised, Double-blind, Placebo-controlled Phase 2B Clinical Trial of Repeated Application of Gene Therapy in Patients With Cystic Fibrosis[NCT01621867]	Phase 2	130 participants (Actual)	Interventional	2012-05-31	Completed
Clinical Efficacy of Xylitol Based Nasal Spray for the Treatment of Mild COVID-19 Infection[NCT05618483]		80 participants (Anticipated)	Interventional	2022-11-28	Not yet recruiting
Randomized Controlled Study of Aerosolized Hypertonic Xylitol Versus Hypertonic Saline in Hospitalized Patients With Exacerbation of Cystic Fibrosis[NCT00928135]	Phase 1/Phase 2	63 participants (Actual)	Interventional	2013-01-22	Completed
Randomized Cross Over Study of Inhaled Hypertonic Xylitol Versus Hypertonic Saline in Stable Subjects With Cystic Fibrosis[NCT01355796]	Phase 1/Phase 2	30 participants (Actual)	Interventional	2011-05-31	Completed
A Single Arm 48-Week Follow-on Safety Study to the Core Study (A Multicentre, Multinational, Open-Label, Randomised, Parallel Group Clinical Trial of Tobrineb®/Actitob®/Bramitob® (Tobramycin Solution for Nebulisation, 300mg Twice Daily in 4mL Unit Dose Vi[NCT01111383]	Phase 3	209 participants (Actual)	Interventional	2009-09-30	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

BMI was defined as weight in kg divided by height in m^2. Z-score is a statistical measure to describe whether a mean was above or below the standard. BMI, adjusted for age and sex, was analyzed as BMI-for-age z-score. A z-score of 0 is equal to the mean and is considered normal. Lower numbers indicate values lower than the mean and higher numbers indicate values higher than the mean. Higher values are indicative of higher BMI. (NCT03525444)
Timeframe: From Baseline at Week 24

Absolute Change in Body Mass Index (BMI)

Intervention	z-score (Least Squares Mean)
Placebo	0.04
VX-445/TEZ/IVA TC	0.34

BMI was defined as weight in kilogram (kg) divided by height in square meter (m^2). (NCT03525444)
Timeframe: From Baseline at Week 24

Absolute Change in Body Weight

Absolute Change in Cystic Fibrosis Questionnaire Revised (CFQ-R) Respiratory Domain Score

Intervention	kilogram per meter square (kg/m^2) (Least Squares Mean)
Placebo	0.09
VX-445/TEZ/IVA TC	1.13

Intervention	kg (Least Squares Mean)
Placebo	0.5
VX-445/TEZ/IVA TC	3.4

The CFQ-R is a validated participant-reported outcome measuring health-related quality of life for participants with cystic fibrosis. Respiratory domain assessed respiratory symptoms, score range: 0-100; higher scores indicating fewer symptoms and better health-related quality of life. (NCT03525444)
Timeframe: From Baseline at Week 4

Absolute Change in Cystic Fibrosis Questionnaire Revised (CFQ-R) Respiratory Domain Score

Intervention	units on a scale (Least Squares Mean)
Placebo	-1.9
VX-445/TEZ/IVA TC	18.1

Absolute Change in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1)

Intervention	units on a scale (Least Squares Mean)
Placebo	-2.7
VX-445/TEZ/IVA TC	17.5

FEV1 is the volume of air that can forcibly be blown out in one second, after full inspiration. (NCT03525444)
Timeframe: From Baseline at Week 4

Absolute Change in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1)

Intervention	percentage points (Least Squares Mean)
Placebo	-0.2
VX-445/TEZ/IVA TC	13.6

FEV1 is the volume of air that can forcibly be blown out in one second, after full inspiration. (NCT03525444)
Timeframe: From Baseline through Week 24

Absolute Change in Sweat Chloride

Intervention	percentage points (Least Squares Mean)
Placebo	-0.4
VX-445/TEZ/IVA TC	13.9

Sweat samples were collected using an approved collection device. (NCT03525444)
Timeframe: From Baseline at Week 4

Absolute Change in Sweat Chloride (SwCl)

Intervention	mmol/L (Least Squares Mean)
Placebo	0.1
VX-445/TEZ/IVA TC	-41.2

Sweat samples were collected using an approved collection device. (NCT03525444)
Timeframe: From Baseline through Week 24

Number of Pulmonary Exacerbations (PEx)

Intervention	millimole per liter (mmol/L) (Least Squares Mean)
Placebo	-0.4
VX-445/TEZ/IVA TC	-42.2

Pulmonary exacerbation was defined as the treatment with new or changed antibiotic therapy (intravenous, inhaled, or oral) for greater than or equal to 4 sinopulmonary signs/symptoms. (NCT03525444)
Timeframe: From Baseline through Week 24

Time-to-first Pulmonary Exacerbation (PEx)

Intervention	pulmonary exacerbation events (Number)
Placebo	113
VX-445/TEZ/IVA TC	41

Observed Pre-dose Concentration (Ctrough) of VX-445, TEZ, M1-TEZ, and IVA

Safety and Tolerability as Assessed by Number of Participants With Treatment-Emergent Adverse Events (AEs) and Serious Adverse Events (SAEs)

Intervention	days (Median)
Placebo	NA
VX-445/TEZ/IVA TC	NA

Intervention	microgram per milliliter (mcg/mL) (Mean)
	VX-445 (Week 4)	VX-445 (Week 8)	VX-445 (Week 12)	VX-445 (Week 16)	TEZ (Week 4)	TEZ (Week 8)	TEZ (Week 12)	TEZ (Week 16)	M1-TEZ (Week 4)	M1-TEZ (Week 8)	M1-TEZ (Week 12)	M1-TEZ (Week 16)	IVA (Week 4)	IVA (Week 8)	IVA (Week 12)	IVA (Week 16)
VX-445/TEZ/IVA TC	5.02	4.90	4.99	4.75	2.16	2.14	2.22	2.32	5.18	5.09	5.06	5.29	0.748	0.738	0.758	0.778

(NCT03525444)
Timeframe: From first dose of study drug in TC treatment period up to 28 days after last dose of study drug or to the completion of study participation date, whichever occurs first (up to 28 weeks)

Absolute Change in CFQ-R Respiratory Domain Score for ELX/TEZ/IVA Group Compared to the Control Group

Intervention	Participants (Count of Participants)
	Participants with TEAEs	Participants with Serious TEAEs
Placebo	193	42
VX-445/TEZ/IVA TC	188	28

Absolute Change in Cystic Fibrosis Questionnaire-Revised (CFQ-R) Respiratory Domain Score for ELX/TEZ/IVA Group

Intervention	units on a scale (Least Squares Mean)
Control: IVA or TEZ/IVA	1.6
TC: ELX/TEZ/IVA	10.3

Absolute Change in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) for ELX/TEZ/IVA Group

Intervention	units on a scale (Least Squares Mean)
TC: ELX/TEZ/IVA	10.3

FEV1 is the volume of air that can forcibly be blown out in one second, after full inspiration. (NCT04058353)
Timeframe: From Baseline Through Week 8

Absolute Change in ppFEV1 for the ELX/TEZ/IVA Group Compared to the Control Group

Intervention	percentage points (Least Squares Mean)
TC: ELX/TEZ/IVA	3.7

FEV1 is the volume of air that can forcibly be blown out in one second, after full inspiration. (NCT04058353)
Timeframe: From Baseline Through Week 8

Absolute Change in SwCl for ELX/TEZ/IVA Group Compared to the Control Group

Intervention	percentage points (Least Squares Mean)
Control: IVA or TEZ/IVA	0.2
TC: ELX/TEZ/IVA	3.7

Sweat samples were collected using an approved collection device. (NCT04058353)
Timeframe: From Baseline Through Week 8

Absolute Change in Sweat Chloride (SwCl) for ELX/TEZ/IVA Group

Intervention	mmol/L (Least Squares Mean)
Control: IVA or TEZ/IVA	0.7
TC: ELX/TEZ/IVA	-22.3

Sweat samples were collected using an approved collection device. (NCT04058353)
Timeframe: From Baseline Through Week 8

Safety and Tolerability as Assessed by Number of Participants With Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs)

Part A: Area Under Plasma Concentration Time Curve From Time of Dosing to Last Measurable Concentration (AUC0-tlast) of VX-445

Intervention	millimole per Liter (mmol/L) (Least Squares Mean)
TC: ELX/TEZ/IVA	-22.3

Intervention	participants (Number)
	Participants With TEAEs	Participants With SAEs
Control: IVA or TEZ/IVA	83	11
TC: ELX/TEZ/IVA	88	5

(NCT03227471)
Timeframe: Cohort A1-5: Pre-dose to 96 hours post-dose; Cohort A7: Pre-dose to 120 hours post-dose

Part A: Maximum Observed Concentration (Cmax) of VX-445

Intervention	microgram*hour per milliliter (Geometric Mean)
Part A: VX-445 (Cohort A1)	11.4
Part A: VX-445 (Cohort A2)	30.8
Part A: VX-445 (Cohort A3)	87.1
Part A: VX-445 (Cohort A4)	125
Part A: VX-445 (Cohort A5)	286
Part A: VX-445 (Cohort A7-Fasted)	21.8
Part A: VX-445 (Cohort A7-Fed)	55.1
Part A: VX-445 (Cohort A7-IV)	13.6

(NCT03227471)
Timeframe: Cohort A1-A5: Pre-dose to 96 hours post-dose; Cohort A7: Pre-dose to 120 hours post-dose

Part B: Observed Pre-dose Plasma Concentration (Ctrough) of VX-445

Part D: Absolute Change in Cystic Fibrosis Questionnaire-Revised (CFQ-R) Respiratory Domain Score

Intervention	microgram per milliliter (Geometric Mean)
Part A: VX-445 (Cohort A1)	0.398
Part A: VX-445 (Cohort A2)	0.989
Part A: VX-445 (Cohort A3)	2.52
Part A: VX-445 (Cohort A4)	4.56
Part A: VX-445 (Cohort A5)	7.07
Part A: VX-445 (Cohort A7-Fasted)	0.486
Part A: VX-445 (Cohort A7-Fed)	1.76
Part A: VX-445 (Cohort A7-IV)	0.740

Intervention	microgram per milliliter (Geometric Mean)
Part B: VX-445 (Cohort B1)	1.05
Part B: VX-445 (Cohort B2)	2.81
Part B: VX-445 (Cohort B3)	7.10
Part B: VX-445 (Cohort B4)	11.5

Part D: Absolute Change in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1)

Intervention	units on a scale (Least Squares Mean)
Part D: Placebo	4.2
Part D: VX-445/TEZ/IVA TC - Low Dose	20.8
Part D: VX-445/TEZ/IVA TC - Medium Dose	15.4
Part D: VX-445/TEZ/IVA TC - High Dose	25.7