ALLMedicine™ Acute Intermittent Porphyria Center
Research & Reviews 132 results
American Journal of Medical Genetics. Part A; Stutterd CA, Kidd A et. al.
Jun 5th, 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...
https://doi.org/10.1007/s40265-021-01511-3 10.1002/hep4.1297 10.1056/NEJMra1608634 10.1007/s11910-020-01078-8 10.1002/humu.23067 10.1016/j.amjmed.2014.06.036 10.1016/j.amjmed.2014.10.026 10.1002/hep.29313 10.1177/0004563212474555 10.1002/hep.30936 10.1007/s40271-018-0319-3 10.1016/S0140-6736(09)61925-5 10.1111/joim.12750 10.1007/s40291-019-00438-6 10.1016/j.ymthe.2020.06.015 10.1056/NEJMe2010986 10.1073/pnas.1406228111 10.1038/mtna.2015.36 10.1056/NEJMoa1807838 10.1002/cpt.1802 10.1056/NEJMoa1913147 10.1080/23808993.2021.1838275 10.1016/j.ejim.2020.04.002 10.1358/dot.2021.57.1.3230207
Drugs Syed YY
Apr 19th, 2021 - Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the phase 3 ENVISION trial, givosiran significantly reduced the annualized ...
Journal of Inherited Metabolic Disease; To-Figueras J, Wijngaard R et. al.
Apr 16th, 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...
Molecular Genetics & Genomic Medicine; Martinez MDC, Cerbino GN et. al.
Mar 25th, 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...
Orphanet Journal of Rare Diseases; Buendía-Martínez J, Barreda-Sánchez M et. al.
Feb 28th, 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 ...
Guidelines 1 results
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.
Apr 22nd, 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...
Drugs 39 results see all →
Clinicaltrials.gov 5 results
Jul 26th, 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...
Jun 13th, 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.
Mar 8th, 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...
Apr 16th, 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...
Jun 23rd, 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...
News 3 results
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.
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.
Mar 1st, 2016 - Treatment Treatment targets runaway heme precursor synthesis at its start and finish (Figure). Glucose-loading suppresses the initial enzyme, ALA synthase.