A multicentre Gyrate Atrophy (GACR) patient database in the UK
Research type
Research Study
Full title
A multicentre Gyrate Atrophy patient database in the UK
IRAS ID
328438
Contact name
Karolina Stepien
Contact email
Sponsor organisation
Northern Care Alliance NHS Foundation Trust
Duration of Study in the UK
5 years, 11 months, 30 days
Research summary
Gyrate atrophy of the choroid and retina (GACR) is a rare inborn metabolic disease. The disease is characterized by progressive deterioration of vision, which eventually leads to blindness when patients are between forty and fifty years old. However, despite the existing treatment, disease progression continues and many patients end up severely visually impaired. Little is known about the factors that play a role in GACR's prognosis. This is mainly due to a lack of research into GACR and its treatment options. Most research consists of case reports. This is also due to the very small patient population (n=25-30 in the UK) and the often late diagnosis of the clinical picture. By compiling a database of all patients in the UK who have been diagnosed with GACR, we can collect data on the clinical course of their condition, as well as genetic and biochemical parameters, in order to get an indication of the course of the clinical picture. Possibly we could correlate different gradients with mutations, treatments, or other factors that may play a role.
In 2019, the Gyrate Atrophy Network was established in the Netherlands. It
focuses on the advancement of research, diagnosis and treatment of this condition by close collaboration between clinicians, scientists and patient associations. Our mission is to improve the quality of care and access to multidisciplinary
expertise for GACR patients affected by this condition. One of the objectives is the development and maintenance of a patient registry for the collection of
historical clinical data and recruitment of patients into clinical trials. A registry for patients will allow us to delineate the medical history of dietary treated patients and answer scientific questions to develop care pathways.REC name
North West - Preston Research Ethics Committee
REC reference
24/NW/0261
Date of REC Opinion
20 Aug 2024
REC opinion
Favourable Opinion