ALAS1 gene analysis in patients with acute intermittent porphyria
Research type
Research Study
Full title
Molecular Analysis of the ALAS1 Gene In Patients With Acute Intermittent Porphyria
IRAS ID
143795
Contact name
Sharon D Whatley
Contact email
Research summary
Acute intermittent porphyria (AIP) affects 1-2 in 100 000 people in the UK. Those clinically affected suffer from severe abdominal pain, nausea, vomiting and may become confused or have unusual behaviour. Less commonly convulsions and muscular weakness may lead to paralysis. These porphyria attacks can be triggered by a variety of factors, including prescribed drugs, hormonal changes and severe infection and stress. However more than 90% of those who inherit AIP do not suffer any symptoms during their lifetime.
At present we are unable to predict which patients are most at risk of acute attacks, and all patients who inherit AIP are therefore advised to avoid possible triggers, including a large number of prescribed medications.
AIP is caused by a damaged enzyme in a pathway that makes haem which is essential in the body. This pathway is controlled by the first enzyme delta-aminolevulinate synthase (ALAS) and we think that changes in this enzyme, or the way it is controlled, may cause patients with AIP to have acute attacks.
The Cardiff Porphyria Service is a national clinical and diagnostic centre with a long standing interest in the acute porphyrias. As such we have undertaken genetic testing for AIP on many patients and family members. In this study we aim to use the remainder of the samples we have received (with permission from the referring laboratories) to investigate if alterations in the ALAS1 gene that codes for the controlling enzyme, predisposes patients to acute attacks.
REC name
London - Surrey Borders Research Ethics Committee
REC reference
13/LO/1959
Date of REC Opinion
13 Jan 2014
REC opinion
Favourable Opinion