porphobilinogen has been researched along with Hepatic Porphyria in 25 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients with major forms of acute hepatic porphyria present acute neurological attacks with overproduction of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA)." | 8.12 | ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. ( Bernardo-Seisdedos, G; Cendoya, X; Laín, A; Mateos, B; Mato, JM; Millet, O; Pereira-Ortuzar, T; Planes, FJ; San Juan, I; To-Figueras, J, 2022) |
| "The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase." | 5.41 | AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. ( Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B, 2023) |
| "Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway." | 5.01 | Acute hepatic porphyrias: Current diagnosis & management. ( Anderson, KE, 2019) |
| "Acute hepatic porphyria (AHP) is a group of four rare inherited diseases, each resulting from a deficiency in a distinct enzyme in the heme biosynthetic pathway." | 4.31 | Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples. ( Anderson, KE; Dickey, A; Erwin, A; Leaf, RK; Moghe, A; O'Brien, A; Quigley, JG; Thapar, M, 2023) |
| "The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and monitoring of acute hepatic porphyrias (AHP)." | 4.31 | Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients. ( Dessendier, N; Gouya, L; Junot, C; Lefebvre, T; Manceau, H; Moulouel, B; Nguyen, AL; Poli, A; Puy, H; Schmitt, C; Talbi, N, 2023) |
| "Patients with major forms of acute hepatic porphyria present acute neurological attacks with overproduction of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA)." | 4.12 | ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. ( Bernardo-Seisdedos, G; Cendoya, X; Laín, A; Mateos, B; Mato, JM; Millet, O; Pereira-Ortuzar, T; Planes, FJ; San Juan, I; To-Figueras, J, 2022) |
| "A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described." | 3.69 | Coexistence of hereditary coproporphyria with acute intermittent porphyria. ( Gregor, A; Kostrzewska, E; Stachurska, H; Tarczynska-Nosal, S, 1994) |
| "Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme." | 3.11 | Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study. ( Balwani, M; Cassiman, D; Kubisch, I; Liu, S; Sweetser, MT; Takase, KI; Thapar, M; Ventura, P; Wang, B, 2022) |
| "The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]." | 2.61 | Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). ( Bonkovsky, HL; Dixon, N; Rudnick, S, 2019) |
| "This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT)." | 2.53 | Hepatic porphyria: A narrative review. ( Arora, S; Kodali, S; Singal, AK; Young, S, 2016) |
| "Although classified as an acute hepatic porphyria (AHP), induction of the rate limiting hepatic enzyme 5-aminolevulinic acid synthase-1 (ALAS1) has not been demonstrated, and the marrow may also contribute excess 5-aminolevulinic acid (ALA)." | 1.56 | 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. ( Anderson, KE; Chan, A; Desnick, RJ; Lahiji, AP; Ramanujam, VMS; Simon, A, 2020) |
| "Patients with acute hepatic porphyria are denied essential operations because of concern that general anaesthesia and surgery will precipitate a life threatening porphyric crisis." | 1.29 | Safety of general anaesthesia and surgery in acute hepatic porphyria. ( Dover, SB; McColl, KE; Moore, MR; Plenderleith, L, 1994) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (12.00) | 18.7374 |
| 1990's | 10 (40.00) | 18.2507 |
| 2000's | 3 (12.00) | 29.6817 |
| 2010's | 3 (12.00) | 24.3611 |
| 2020's | 6 (24.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wang, B | 2 |
| Ventura, P | 1 |
| Takase, KI | 1 |
| Thapar, M | 2 |
| Cassiman, D | 1 |
| Kubisch, I | 1 |
| Liu, S | 1 |
| Sweetser, MT | 1 |
| Balwani, M | 2 |
| San Juan, I | 1 |
| Pereira-Ortuzar, T | 1 |
| Cendoya, X | 1 |
| Laín, A | 1 |
| To-Figueras, J | 1 |
| Mateos, B | 1 |
| Planes, FJ | 1 |
| Bernardo-Seisdedos, G | 1 |
| Mato, JM | 1 |
| Millet, O | 1 |
| Bonkovsky, HL | 2 |
| Lim, JK | 1 |
| Moghe, A | 1 |
| Dickey, A | 1 |
| Erwin, A | 1 |
| Leaf, RK | 1 |
| O'Brien, A | 1 |
| Quigley, JG | 1 |
| Anderson, KE | 3 |
| Poli, A | 1 |
| Manceau, H | 1 |
| Nguyen, AL | 1 |
| Moulouel, B | 1 |
| Dessendier, N | 1 |
| Talbi, N | 1 |
| Puy, H | 1 |
| Junot, C | 1 |
| Gouya, L | 1 |
| Schmitt, C | 1 |
| Lefebvre, T | 1 |
| Lahiji, AP | 1 |
| Chan, A | 1 |
| Simon, A | 1 |
| Desnick, RJ | 1 |
| Ramanujam, VMS | 1 |
| Dixon, N | 1 |
| Rudnick, S | 1 |
| Arora, S | 1 |
| Young, S | 1 |
| Kodali, S | 1 |
| Singal, AK | 1 |
| MERCHANTE, A | 1 |
| WAJCHENBERG, BL | 1 |
| SCHWARTZ, S | 1 |
| Hift, RJ | 1 |
| Todd, G | 1 |
| Meissner, PN | 1 |
| Kirsch, RE | 1 |
| Bloomer, JR | 1 |
| McGuire, BM | 1 |
| Romeo, G | 1 |
| Böhrer, H | 1 |
| Schmidt, H | 1 |
| Martin, E | 1 |
| Lux, R | 1 |
| Bolsen, K | 1 |
| Goerz, G | 2 |
| Sieg, I | 1 |
| Bhutani, LK | 1 |
| Doss, MO | 3 |
| Gross, U | 2 |
| Honcamp, M | 1 |
| Daume, E | 1 |
| Frank, M | 1 |
| Düsterberg, B | 1 |
| Dover, SB | 1 |
| Plenderleith, L | 1 |
| Moore, MR | 1 |
| McColl, KE | 1 |
| Gregor, A | 1 |
| Kostrzewska, E | 1 |
| Tarczynska-Nosal, S | 1 |
| Stachurska, H | 1 |
| Sasaki, H | 1 |
| Kaneko, K | 1 |
| Tsuneyama, H | 1 |
| Daimon, M | 1 |
| Yamatani, K | 1 |
| Manaka, H | 1 |
| Lam, H | 1 |
| Dragan, L | 1 |
| Tsou, HC | 1 |
| Merk, H | 1 |
| Peacocke, M | 1 |
| Sassa, S | 2 |
| Poh-Fitzpatrick, M | 1 |
| Bickers, DR | 1 |
| Christiano, AM | 1 |
| Allen, KR | 1 |
| Rushworth, PA | 1 |
| Degg, TJ | 1 |
| Barth, JH | 1 |
| Yano, Y | 1 |
| Kondo, M | 1 |
| Kühnel, A | 1 |
| Akagi, R | 1 |
| Prchal, JT | 1 |
| Eberhart, CE | 1 |
| Rojas, F | 1 |
| Aguilera, S | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias[NCT03338816] | Phase 3 | 94 participants (Actual) | Interventional | 2017-11-16 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Annualized rate of hemin doses was evaluated as annualized days of hemin use. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized rate of use (Mean) |
|---|---|
| Placebo | 29.71 |
| Givosiran 2.5 mg/kg | 6.77 |
Porphyria attacks were defined as meeting all of the following criteria: an acute episode of neurovisceral pain in the abdomen, back, chest, extremities and/or limbs, no other medically determined cause, and required treatment with intravenous (IV) dextrose or hemin, carbohydrates, or analgesics, or other medications such as antiemetics at a dose or frequency beyond the participant's usual daily porphyria management. The annualized rate of porphyria attacks is a composite endpoint which included porphyria attacks requiring hospitalization, urgent healthcare visit, or IV hemin administration at home. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized attack rate (Mean) |
|---|---|
| Placebo | 12.52 |
| Givosiran 2.5 mg/kg | 3.22 |
Porphyria attacks were defined as meeting all of the following criteria: an acute episode of neurovisceral pain in the abdomen, back, chest, extremities and/or limbs, no other medically determined cause, and required treatment with intravenous (IV) dextrose or hemin, carbohydrates, or analgesics, or other medications such as antiemetics at a dose or frequency beyond the participant's usual daily porphyria management. The annualized rate of porphyria attacks is a composite endpoint which included porphyria attacks requiring hospitalization, urgent healthcare visit, or IV hemin administration at home. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized attack rate (Mean) |
|---|---|
| Placebo | 12.26 |
| Givosiran 2.5 mg/kg | 3.35 |
Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale*week (Median) |
|---|---|
| Placebo | 5.286 |
| Givosiran 2.5 mg/kg | -11.514 |
Participants rated worst daily nausea score in an eDiary using an 11-point NRS, in which 0=no nausea and 10=worst nausea. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -4.011 |
| Givosiran 2.5 mg/kg | 1.481 |
Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale*week (Least Squares Mean) |
|---|---|
| Placebo | -4.208 |
| Givosiran 2.5 mg/kg | -11.148 |
Participants rated worst daily nausea score in an eDiary using an 11-point NRS, in which 0=no nausea and 10=worst nausea. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -0.181 |
| Givosiran 2.5 mg/kg | 0.067 |
Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -0.182 |
| Givosiran 2.5 mg/kg | -0.502 |
Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Median) |
|---|---|
| Placebo | 0.245 |
| Givosiran 2.5 mg/kg | -0.506 |
The SF-12 is a survey designed for use in patients with multiple chronic conditions. This 12-item scale can be used to assess the physical and mental health of respondents. 10 of the 12 questions are answered on a 5 point likert scale and 2 are answered on a 3 point likert scale. The questions are then scored and weighted into 2 subscales, physical health and mental health. Respondents can have a score that ranges from 0-100 with 100 being the best score and indicating high physical or mental health. A 3 point change in SF-12 score reflects a meaningful difference. A higher score indicates improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | 1.431 |
| Givosiran 2.5 mg/kg | 5.369 |
The PD effect of givosiran was evaluated by spot urine PBG levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 6 months
| Intervention | mmol/mol Cr (Least Squares Mean) |
|---|---|
| Placebo | 49.110 |
| Givosiran 2.5 mg/kg | 12.906 |
The PD effect of givosiran was evaluated by spot urine ALA levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 3 and 6 months
| Intervention | mmol/mol creatinine (Cr) (Least Squares Mean) | |
|---|---|---|
| Month 3 | Month 6 | |
| Givosiran 2.5 mg/kg | 1.756 | 4.013 |
| Placebo | 19.965 | 23.150 |
6 reviews available for porphobilinogen and Hepatic Porphyria
| Article | Year |
|---|---|
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Topics: Abdominal Pain; Aminolevulinic Acid; Antiemetics; Carcinoma, Hepatocellular; Creatinine; Female; Hem | 2023 |
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Topics: Anxiety; Heme; Humans; Mutation; Neuralgia; Porphobilinogen; Porphobilinogen Synthase; Porphyrias, H | 2019 |
Acute hepatic porphyrias: Current diagnosis & management.
Topics: Animals; Biosynthetic Pathways; Clinical Trials as Topic; Disease Management; Heme; Hemin; Humans; M | 2019 |
Hepatic porphyria: A narrative review.
Topics: Acute Disease; Alcoholism; Biomarkers; Glucose; Hemin; Hemochromatosis; Hepatitis C; HIV Infections; | 2016 |
The hepatic porphyrias.
Topics: 5-Aminolevulinate Synthetase; Acute Disease; Adolescent; Adult; Aminolevulinic Acid; Chemical Phenom | 1980 |
[Hereditary coproporphyria (HCP)].
Topics: Aminolevulinic Acid; Biomarkers; Diagnosis, Differential; Mutation; Porphobilinogen; Porphobilinogen | 1998 |
2 trials available for porphobilinogen and Hepatic Porphyria
| Article | Year |
|---|---|
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.
Topics: Cost of Illness; Hemin; Humans; Pain; Porphobilinogen; Porphobilinogen Synthase; Porphyria, Acute In | 2022 |
Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration.
Topics: Administration, Oral; Adolescent; Adult; Aminolevulinic Acid; Analysis of Variance; Charcoal; Female | 2003 |
17 other studies available for porphobilinogen and Hepatic Porphyria
| Article | Year |
|---|---|
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.
Topics: Humans; Hydroxymethylbilane Synthase; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias, He | 2022 |
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Topics: Heme; Humans; Porphobilinogen; Porphobilinogen Synthase; Porphyrias, Hepatic | 2023 |
Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients.
Topics: Aminolevulinic Acid; Chromatography, Liquid; Humans; Porphobilinogen; Porphyrias; Porphyrias, Hepati | 2023 |
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Topics: 5-Aminolevulinate Synthetase; Adolescent; Adult; Child; Child, Preschool; Female; Heme; Hemin; Human | 2020 |
Conversion of porphobilinogen to porphyrin by liver homogenates of rats with experimental hepatic porphyria.
Topics: Animals; Liver; Porphobilinogen; Porphyrias; Porphyrias, Hepatic; Porphyrins; Rats | 1957 |
Intermittent unexplained abdominal pain: is it porphyria?
Topics: Abdominal Pain; Acute Disease; Adult; Aminolevulinic Acid; Anti-Infective Agents; Cimetidine; Contra | 2007 |
Testing the porphyrinogenicity of propofol in a primed rat model.
Topics: 5-Aminolevulinate Synthetase; Allylisopropylacetamide; Aminolevulinic Acid; Anesthetics, Intravenous | 1995 |
Dual porphyria of coexisting variegata and cutanea tarda.
Topics: Adult; Aged; Aminolevulinic Acid; Feces; Female; Humans; Male; Porphobilinogen; Porphyria Cutanea Ta | 1995 |
Hormonal oral contraceptives, urinary porphyrin excretion and porphyrias.
Topics: Adult; Aminolevulinic Acid; Contraceptives, Oral, Combined; Contraceptives, Oral, Hormonal; Copropor | 1995 |
Safety of general anaesthesia and surgery in acute hepatic porphyria.
Topics: Acute Disease; Adult; Aged; Aminolevulinic Acid; Anesthesia, General; Child, Preschool; Contraindica | 1994 |
Coexistence of hereditary coproporphyria with acute intermittent porphyria.
Topics: Adolescent; Adult; Aged; Aminolevulinic Acid; Child; Female; Humans; Male; Middle Aged; Pedigree; Po | 1994 |
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan.
Topics: Adolescent; Adult; Aged; Biomarkers; Child; Coproporphyrins; Feces; Female; Humans; Japan; Male; Mid | 1996 |
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
Topics: Adult; Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 1; DNA Prime | 1997 |
Measurement of urinary porphobilinogen and porphyrins: preliminary data from a pilot QA scheme.
Topics: Chemistry, Clinical; Coproporphyrins; Humans; Pilot Projects; Porphobilinogen; Porphyria Cutanea Tar | 1997 |
Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Aminolevulinic Acid; Arginine; Child; Chromatography, Hi | 2000 |
An acquired acute hepatic porphyria: a novel type of delta-aminolevulinate dehydratase inhibition.
Topics: Acute Disease; Aminolevulinic Acid; Blotting, Western; Colorimetry; Dithiothreitol; Humans; Male; Mi | 1992 |
[Ion-exchange chromatography in the diagnosis of hepatic porphyria].
Topics: Amines; Aminolevulinic Acid; Anion Exchange Resins; Chromatography, Ion Exchange; Humans; Ketones; P | 1974 |