porphobilinogen has been researched along with Porphyrias, Hepatic in 25 studies
Porphyrias, Hepatic: A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
| 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 Porphyrias, Hepatic
| 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 Porphyrias, Hepatic
| 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 Porphyrias, Hepatic
| 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 |