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About 495 results

ALLMedicine™ Acute Intermittent Porphyria Center

Research & Reviews  135 results

Carbohydrate Counting and DASH Intervention Among Children With Diabetes and Celiac Disease.
https://clinicaltrials.gov/ct2/show/NCT05132725

Nov 24th, 2021 - the main objective of this study to compare the effects of three diets: carbohydrate count with gluten-free diet, DASH and carbohydrate count with gluten-free diet, and gluten-free diet alone on glycemic control, growth rate, and the quality of li...

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...

Neurology of the acute hepatic porphyrias.
https://doi.org/10.1016/j.jns.2021.117605
Journal of the Neurological Sciences; Oliveira Santos M, Leal Rato M

Aug 11th, 2021 - Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyr...

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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

Carbohydrate Counting and DASH Intervention Among Children With Diabetes and Celiac Disease.
https://clinicaltrials.gov/ct2/show/NCT05132725

Nov 24th, 2021 - the main objective of this study to compare the effects of three diets: carbohydrate count with gluten-free diet, DASH and carbohydrate count with gluten-free diet, and gluten-free diet alone on glycemic control, growth rate, and the quality of li...

Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)
https://clinicaltrials.gov/ct2/show/NCT01617642

Dec 7th, 2020 - In a group of people with proven acute intermittent porphyria (AIP) mutation, some will remain asymptomatic, while others have repeated periods of porphyria symptoms. Glucose inhibits ALA synthetase (ALAS), the first rate-limiting enzyme in the ha...

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.

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...

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News  5 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.

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...

Hemophilia B Gene Therapy Receives Orphan Status in United States
https://www.staging.medscape.com/viewarticle/756452

Jan 5th, 2012 - January 5, 2012 — A promising gene therapy for hemophilia B that received orphan designation in the European Union in November 2011 received the same status from the US Food and Drug Administration on January 4, 2012, as reported in a press releas...

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Patient Education  2 results see all →