Natural History of Acute Hepatic Porphyria (AHP)
Research type
Research Study
Full title
Natural History Study of Acute Hepatic Porphyria (AHP) Patients with Recurrent Attacks
IRAS ID
158749
Contact name
Michael Badminton
Contact email
Sponsor organisation
Alnylam Pharmaceuticals Inc.
Duration of Study in the UK
8 years, 3 months, 31 days
Research summary
Research Summary:
Acute hepatic porphyria (AHP)is a term used for three related illnesses called porphyrias including Acute Intermittent Porphyria (AIP), Variegate Porphyria (VP), and Hereditary Coproporphyria (HCP). Porphyrias rare diseases that are usually inherited. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, which helps carry oxygen through the body and other proteins function. Porphyrins and porphyrin precursors of heme then build up in the body and can cause an acute illness or attack, that most often affects the nervous system and the skin.This study will investigate the natural history of AHP using questionnaires and medical history data. In addition, some "biomarkers" associated with AHP will be investigated. It is hoped that learning more about AHP biomarkers may help researchers develop treatments for the disease.
The study will involve collecting data and samples from approximately 100 patients in up to 20 centres worldwide. Samples of urine and blood specifically for analysis of biomarkers will be collected at the beginning of the study, after 6 months in the study, and if an AHP attack occurs during the study. Participants can choose to continue after completing 6 months in the study and blood and urine samples will be collected for biomarker analysis after 12 months.
No genetic testing will be performed.
Research Summary:
Excerpt from summary study report for participants (at 12 month results):"Key findings include:
• Approximately 9 attacks in the year before the study, on average, were reported by participants. This ranged from 0 to as many as 54. 84% of participants experienced at least 1 attack during the study.
• Almost everyone experienced pain during their attacks. Other common symptoms included tiredness and sleep problems, feeling anxious, trouble concentrating, nausea, vomiting and loss of appetite, constipation, weakness, changed urine colour, fast heart beat and sweating.
• Attacks lasted 1 week on average, but ranged from 1 day to nearly 5 weeks in duration.
• Approximately 5 hospitalisations per year for porphyria, each for almost 7 days, was the average reported by study participants who were hospitalised.
• Between attacks, most participants had porphyria symptoms, most commonly pain. Almost half reported symptoms every day."REC name
London - Riverside Research Ethics Committee
REC reference
14/LO/1464
Date of REC Opinion
26 Sep 2014
REC opinion
Further Information Favourable Opinion