Evaluation of novel biomarkers in classical galactosaemia
Research type
Research Study
Full title
Evaluation of novel metabolic biomarkers for neurological outcome, fertility and bone pathology in patients with classical galactosaemia
IRAS ID
173266
Contact name
Charlotte Dawson
Contact email
Sponsor organisation
Children's Universith Hospital Dublin
Duration of Study in the UK
0 years, 2 months, 21 days
Research summary
Galactosemia is a rare inherited disorder. Affected individuals are unable to breakdown the sugar, lactose present in dairy products and other foods. They follow a lactose - restricted diet throughout life, but even with strict adherence to diet some patients develop complications including subfertility, osteopenia, and cognitive and neurological problems. It has long been recognised that these problems do not affect all patients equally, the reasons for which are not fully understood. Furthermore, existing tests for monitoring patients with galactosaemia do not allow us to predict who is at risk of these complications. The study coordinators in Dublin have developed laboratory methods to measure novel substances (biomarkers) in samples of patients' blood. It is intended that these new blood tests will help to identify patients with or at risk of galactosaemia-related complications and improve on existing methods of monitoring their progression. The novel biomarkers may also aid our understanding of the role of strict dietary lactose restriction on the development of galactosemia-related complications. Patients in the UK will be recruited from adult inherited metabolic disorders clinics in nationally designated centres for inherited disorders. We will be asking them to provide three extra blood samples in addition to the samples collected for routine management of their condition. The (anonomised) additional samples will be sent to the study coordinators in Children's University Hospital Dublin for biomarker analysis along with linked anonomised clinical and dietetic data which will be used to aid interpretation of the results of the laboratory tests.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
16/WM/0169
Date of REC Opinion
31 May 2016
REC opinion
Further Information Favourable Opinion