A Prospective Clinical Study of Phenylketonuria (PKU)
Research type
Research Study
Full title
A Prospective Clinical Study of Phenylketonuria (PKU)
IRAS ID
268259
Contact name
Robin Lachmann
Contact email
Sponsor organisation
BioMarin Pharmaceutical Inc
Duration of Study in the UK
3 years, 1 months, 11 days
Research summary
Phenylketonuria (PKU) is a rare inherited disorder which affects the body's ability to break down the amino acid (a building block of protein) phenylalanine (Phe). If the disease is uncontrolled, elevated levels of Phe in the blood are toxic to the brain and can cause brain damage. PKU patients can experience symptoms such as poor sustained attention and a variety of behavioural and psychiatric problems including depression and anxiety, and a negative overall effect on quality of life. Current treatment involves a protein-restricted diet to control the level of Phe in the blood, however poor compliance rates to this diet are often demonstrated particularly amongst the adolescent.
Studies suggest that the maintenance of low blood Phe through life is important in order to provide optimal brain function.
BioMarin Pharmaceutical Inc, the sponsor of this study, wants to evaluate blood Phe levels in PKU patients and further assess clinical outcomes of the disease over time. In addition to blood tests to measure Phe levels, participants will perform a series of neurocognitive tests and complete detailed questionnaires to assess their disease over a 96 week time period. Approximately 90 PKU patients ≥ 14 years will take part in this study globally.
Participants in this study may be considered for a future BioMarin clinical research study to test a gene therapy for PKU; however, participation in this 307-902 study does not guarantee participation in future studies.
REC name
London - Brent Research Ethics Committee
REC reference
19/LO/1682
Date of REC Opinion
22 May 2020
REC opinion
Further Information Favourable Opinion