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About 508 results

ALLMedicine™ Acute Intermittent Porphyria Center

Research & Reviews  141 results

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent po...
https://doi.org/10.1111/joim.13443
Journal of Internal Medicine; Sardh E, Harper P

Jan 25th, 2022 - Acute hepatic porphyria (AHP) is a group of inherited metabolic disorders that affect hepatic heme biosynthesis. They are associated with attacks of neurovisceral manifestations that can be life threatening and constitute what is considered an acu...

Panhematin for Prevention of Acute Attacks of Porphyria
https://clinicaltrials.gov/ct2/show/NCT02922413

Nov 26th, 2021 - This is a double-blind, randomized, placebo-controlled, parallel group trial investigating the efficacy and safety of Panhematin™ for preventing acute attacks in at least 20 subjects with well-documented acute porphyria (acute intermittent porphyr...

ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.
https://doi.org/10.1182/bloodadvances.2021005484
Blood Advances; Farrell CP, Nicolas G et. al.

Nov 2nd, 2021 - The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among f...

Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermitt...
https://doi.org/10.1111/sdi.13025
Seminars in Dialysis; Østergaard MGØ, Erlandsen EJ et. al.

Sep 25th, 2021 - Acute intermittent porphyria is one of eight disorders arising from disturbances in heme biosynthesis where the precursors, 5-aminolevulinate and porphobilinogen, are elevated in plasma and urine. Attacks are characterized by severe abdominal pain...

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synth...
https://doi.org/10.1111/cge.14063
Clinical Genetics; Hu Y, Li W et. al.

Sep 16th, 2021 - A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in-depth investigations of t...

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Guidelines  1 results

Best practice guidelines on clinical management of acute attacks of porphyria and their...
https://doi.org/10.1177/0004563212474555
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.

Apr 23rd, 2013 - The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porph...

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Drugs  49 results see all →

Clinicaltrials.gov  6 results

Panhematin for Prevention of Acute Attacks of Porphyria
https://clinicaltrials.gov/ct2/show/NCT02922413

Nov 26th, 2021 - This is a double-blind, randomized, placebo-controlled, parallel group trial investigating the efficacy and safety of Panhematin™ for preventing acute attacks in at least 20 subjects with well-documented acute porphyria (acute intermittent porphyr...

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
https://clinicaltrials.gov/ct2/show/NCT03284658

May 18th, 2021 - Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic sub-stances build up in the blood and can cause liver failure...

Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria
https://clinicaltrials.gov/ct2/show/NCT01550705

Jan 16th, 2017 - Clinically, both erythropoietic protoporphyria (EPP) and X-linked EPP (XLEPP) are characterized by painful, non-blistering cutaneous photosensitivity with onset in early childhood. EPP is the most common porphyria in children and the third most co...

Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria
https://clinicaltrials.gov/ct2/show/NCT02082860

Dec 18th, 2014 - Acute Intermittent Porphyria (AIP) is inherited as an autosomal dominant disorder of the heme biosynthesis pathway. AIP is caused by a genetic defect in porphobilinogen deaminase (PBGD), a key enzyme for heme synthesis. AIP is characterized by acu...

Hemin in Healthy Subjects
https://clinicaltrials.gov/ct2/show/NCT00882804

Apr 17th, 2009 - Heme-oxygenase 1 (HO-1) degrades heme, protects cells against oxidative stress, and is beneficial in several experimental models but has not been pharmacologically activated in humans. The objectives of this study were to evaluate the effects of h...

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News  6 results

Chronic blistering rash on hands
https://www.mdedge.com/familymedicine/article/211805/dermatology/chronic-blistering-rash-hands/page/0/2?channel=203
MDedge Family Medicine;

Nov 7th, 2019 - Pseudoporphyria has a similar presentation to PCT but with no abnormalities in porphyrin metabolism. Risk factors include UV radiation exposure; use of medications such as nonsteroidal anti-inflammatory drugs, diuretics, and retinoids; chronic ren.

VIDEO: Givosiran cuts acute intermittent porphyria attacks in pivotal trial
https://www.mdedge.com/internalmedicine/article/199737/hepatology/video-givosiran-cuts-acute-intermittent-porphyria-attacks/page/0/1?channel=39313

Apr 28th, 2019 - The study’s primary endpoint was the average annualized rate of porphyria attacks during 6 months of treatment, which was 3. 2 attacks in 46 patients evaluable for efficacy on givosiran treatment and 12.

VIDEO: Givosiran cuts acute intermittent porphyria attacks in pivotal trial
https://www.mdedge.com/internalmedicine/article/199737/hepatology/video-givosiran-cuts-acute-intermittent-porphyria-attacks
Mitchel L. Zoler, PhD

Apr 28th, 2019 - VIENNA – A novel RNA-inhibitor drug, givosiran, produced a large cut in acute porphyria attacks in a pivotal trial with 94 patients with acute hepatic porphyria. Although the study also identified some safety issues with givosiran, an RNA-inhibito.

Morning Break: Bankruptcy for Purdue? Burning Vape Rash; FDA Makeup Warning
https://www.medpagetoday.com/painmanagement/opioids/78392

Mar 6th, 2019 - Note that some links may require subscriptions. Fast Company walks through the implications of Purdue Pharma's possible bankruptcy. A British woman says vaping gave her a "horrible" burning rash that landed her in hospital. (Fox News) After allege...

Elusive Diagnosis of Acute Intermittent Porphyria in a Teenage Girl
https://www.medscape.com/viewarticle/889629

Dec 6th, 2017 - NEW YORK (Reuters Health) - Abdominal pain and hyponatremia in a 16-year-old girl with constipation and disordered eating confounded the diagnosis of a much less common condition, acute intermittent porphyria (AIP), according to a case report publ...

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