RDH12 NHC
Research type
Research Study
Full title
Natural History Study of Patients with RDH12 Associated Retinal Dystrophy
IRAS ID
286957
Contact name
Michel Michaelides
Contact email
Sponsor organisation
MeiraGTx UK II Ltd
Duration of Study in the UK
6 years, 0 months, 1 days
Research summary
This research study aims to follow the presentation and disease progression of the RDH12 gene defect in patients, through a series of visual assessments and questionnaires. This will enable MeiraGTx to grasp a deeper understanding of how the condition develops and determine how it might be treated. The information gained will assist in providing more accurate advice to patients and define efficacy endpoints that may be useful in planned future interventions.
There is currently no approved treatment for retinal degenerations caused by mutations in RDH12. However, the encouraging outcomes from previous gene therapy clinical trials for RPE65-RD, has identified RDH12-RD as another option for gene replacement therapy and the possible benefits of valuable information to assist in future treatment trials.Participants with proven RDH12- associated retinal dystrophy determined from an accredited lab will be eligible to take part in this study. The plan is to recruit a maximum of 100 patients to this study. The study will be conducted by Moorfields Eye Hospital.
Participants will undergo a series of non-invasive testing to assess their vision function. These assessments (which are mandatory for all participants) include genetic testing, study questionnaires, contrast sensitivity and ocular examination, visual acuity, optical coherence tomography, fundus photography and fundus autofluorescence. Other tests which will be optional are reading speed, static perimetry, full-field sensitivity, adaptive optics, and visual mobility assessment. Given the wide variability in the ability of children of different ages to undertake some of the proposed tests, the evaluations for children will be restricted to tests that they can perform comfortably.
REC name
North West - Preston Research Ethics Committee
REC reference
21/NW/0049
Date of REC Opinion
9 Apr 2021
REC opinion
Further Information Favourable Opinion