Investigating outcomes in adults with early-treated phenylketonuria
Research type
Research Study
Full title
Investigating outcomes in adults with early-treated phenylketonuria (PKU)
IRAS ID
230767
Contact name
Lynne Aitkenhead
Contact email
Sponsor organisation
University College London Hospital Trust
Duration of Study in the UK
1 years, 3 months, 1 days
Research summary
Worldwide, there are many adults with phenylketonuria (PKU) who have phenylalanine (Phe) levels significantly above 600 µmol/L. Although the majority of these patients feel well and are leading normal lives, for many years there have been reports of subtle neuropsychological defects in these patients, and case reports of some patients developing psychiatric or neurological disease. As a result, in the USA it is recommended that all individuals with PKU maintain Phe levels of <360 µmol/L throughout life. This year, European guidelines were published which will set a target of <600 µmol/L for adults with PKU. However, there is currently no good evidence to support these recommendations for all adults with PKU.
We hypothesize that, in individuals with previous good metabolic control in childhood and adolescence, Phe levels in adulthood have minimal / no impact on anxiety, depression, quality of life and social and occupational functioning.
We aim to assess long-term outcomes in PKU, with a series of detailed questionnaires and outpatient-based neurocognitive tests administered to patients with PKU and to a matched control group. By looking at the educational and social achievements of adolescent and adult patients, treated from the neonatal period, and assessing perceived quality of life, mood and occupational functioning we would like to identify whether these individuals have reproducible problems and, if so, whether they are related to their Phe levels, either current or historical.
372 patients are currently under active review at the Charles Dent Metabolic Unit. We intend to invite all those meeting inclusion criteria to participate, making this one of the largest adult outcome studies in PKU to date. This study will inform outcome measures for potential future therapies or interventions and provide evidence for a target Phe level in adults with PKU.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
17/WM/0367
Date of REC Opinion
24 Oct 2017
REC opinion
Further Information Favourable Opinion