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About 450 results

ALLMedicine™ Acute Intermittent Porphyria Center

Research & Reviews  132 results

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to bialle...
https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics. Part A; Stutterd CA, Kidd A et. al.

Jun 6th, 2021 - Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of...

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients rece...
https://doi.org/10.1002/jimd.12391
Journal of Inherited Metabolic Disease; To-Figueras J, Wijngaard R et. al.

Apr 17th, 2021 - Acute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients. In th...

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a co...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172188
Molecular Genetics & Genomic Medicine; Martinez MDC, Cerbino GN et. al.

Mar 26th, 2021 - Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS g...

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433
Orphanet Journal of Rare Diseases; Buendía-Martínez J, Barreda-Sánchez M et. al.

Mar 1st, 2021 - Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods ...

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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  39 results see all →

Clinicaltrials.gov  5 results

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

Jul 27th, 2018 - 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 patients with well-documented acute porphyria (acute intermittent porphyr...

A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP)
https://clinicaltrials.gov/ct2/show/NCT02452372

Jun 14th, 2018 - The purpose of this study is to evaluate the safety and tolerability of givosiran (ALN-AS1) in AIP patients as well as to characterize pharmacokinetics (PK) and pharmacodynamics (PD) of ALN-AS1 in AIP patients.

Porphozym in the Treatment of Acute Attacks in AIP
https://clinicaltrials.gov/ct2/show/NCT00418795

Mar 9th, 2018 - The primary objective is: To investigate the biochemical efficacy on plasma porphobilinogen (PBG) of Porphozy(recombinant human porphobilinogen deaminase) in subjects with Acute Intermittent Porphyria (AIP) during an attack and the clinical effica...

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...

Study of Nutritional Factors in Porphyria
https://clinicaltrials.gov/ct2/show/NCT00004788

Jun 24th, 2005 - PROTOCOL OUTLINE: Women record diet intake for at least 1 cycle (28 days), then undergo a comprehensive nutritional assessment at least once during the follicular and luteal phases of the cycle. Men also record diet intake for at least 1 month and...

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News  3 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.

Case Report: Acute Intermittent Porphyria
https://www.mdedge.com/emergencymedicine/article/107206/hematology/case-report-acute-intermittent-porphyria/page/0/1

Mar 1st, 2016 - Treatment Treatment targets runaway heme precursor synthesis at its start and finish (Figure). Glucose-loading suppresses the initial enzyme, ALA synthase.

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