RPGR NHC
Research type
Research Study
Full title
Natural History Study of Patients with X-linked Retinal Dystrophy Associated with Mutations in Retinitis Pigmentosa GTPase Regulator (RGPG)
IRAS ID
258944
Contact name
Michel Michaelides
Contact email
Sponsor organisation
MeiraGTx UK II Ltd
Clinicaltrials.gov Identifier
Duration of Study in the UK
6 years, 0 months, 0 days
Research summary
The purpose of this study is to undertake a detailed prospective phenotypic study of the natural history of retinal dystrophy caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Mutations in the RPGR gene are a major cause of X-linked retinitis pigmentosa (XLRP), which is a severe form of retinitis pigmentosa with an early onset of night blindness (generally <10 years of age) and progression to legal blindness by the 3rd or 4th decade. Mutations in RPGR are also the most common cause of X-linked cone-rod dystrophy (XLCORD), where affected males develop onset of visual symptoms from the 2nd to 4th decade, and show progressive declines in central vision followed by declines in night vision, development of light sensitivity, and myopia. RPGR mutations have also been shown to be associated with X-linked recessive atrophic macular degeneration. Proof of principle studies for RPGR gene replacement therapy has been demonstrated with gene replacement in an RPGR mouse model.
Human clinical trials are now underway. We intend to undertake a detailed prospective phenotypic study to investigate the natural history of RPGR. Detailed phenotyping of patients with RPGR mutations should facilitate the identification of an optimal window for intervention, provide specific parameters to quantify treatment effects and define clinical endpoints, and will help identify suitable patients for therapeutic intervention.
REC name
Wales REC 7
REC reference
19/WA/0065
Date of REC Opinion
7 Mar 2019
REC opinion
Further Information Favourable Opinion