Burden of PAH-deficiency in adults
Research type
Research Study
Full title
Burden of PAH deficiency/PKU among adults: A retrospective chart review and cross-sectional patient survey
IRAS ID
222488
Contact name
Yusof Rahman
Contact email
Sponsor organisation
BioMarin
Duration of Study in the UK
0 years, 7 months, 16 days
Research summary
Phenylalanine hydroxylase (PAH) deficiency is an inherited metabolic condition where the body cannot break down specific compounds commonly present in food. If not promptly and properly managed, neurological and developmental symptoms begin to develop soon after birth and get worse over time. Previously, the adverse outcomes of PAH-deficiency were thought to impact growth and development and management of PAH-deficiency could be relaxed as patients matured into adults. Evidence suggests that adverse neurocognitive and psychiatric outcomes may occur in adults and current guidelines recommend continuing management throughout adulthood. We aim to understand the social, cognitive and economic impact on adults with PAH-deficiency. Both persons with PAH-deficiency and non-PAH deficient persons will be asked to complete a one-time survey that will include questions about their demographic and clinical characteristics, daily functioning, mood, and quality of life. The patients with PAH-deficiency will also undertake an attention-deficit/hyperactivity disorder (ADHD) assessment and data from the previous three years will be collected data from their medical charts.
REC name
London - Surrey Research Ethics Committee
REC reference
17/LO/0469
Date of REC Opinion
23 Jun 2017
REC opinion
Further Information Favourable Opinion