Study to determine no of genetically confirmed patients with RPGR-XLRP
Research type
Research Study
Full title
Study to Determine Presence of Genetically Confirmed RPGR-Associated XLRP Patients at Investigational Sites for Potential Participation in Future Clinical Research Studies
IRAS ID
289807
Contact name
Raj Mukherjee
Contact email
Sponsor organisation
MeiraGTx UK II Ltd.
Clinicaltrials.gov Identifier
EDMS-RIM-118006, 2.0, EDMS number
Duration of Study in the UK
0 years, 5 months, 3 days
Research summary
Research Summary
MGT-RPGR-023 is a multicentre, non-interventional study conducted to determine the presence of genetically confirmed RPGR-associated XLRP patients at investigational sites for potential participation in future clinical research studies. Retinitis pigmentosa (RP) is a group of inherited diseases of the retina. This is characterized by progressive reduction in vision and initially manifest as night blindness, which starts showing in childhood or early adulthood and is progressive throughout the individual’s lifetime. This study is being conducted to determine the number of genetically confirmed participants with RPGRXLRP at investigative sites in hope of future clinical studies in this population, in the targeted regions of interest.
Participants will provide written informed consent form prior to having any study procedures performed. Once informed consent is obtained, the study team will review the participant`s medical record in search of the participant’s medical history to see if the participant is suspected of having RPGR-associated XLRP or if the participant has been diagnosed with RPGR-associated XLRP that was genetically confirmed from an accredited laboratory. Participants suspected of having RPGR-associated XLRP and participants who have been identified with genetically confirmed RPGR-associated XLRP will be captured in the source and case report form (CRF).Participants who might have RPGR-associated XLRP or participants who have been genetically confirmed from a non-accredited laboratory will require genetic testing to confirm the participant’s diagnosis.
This study will be conducted in 20-28 investigational centres globally. The duration of the study will be approximately 3-6 months. No study drug will be administered in this study and participants will have a maximum of two study visits. The study is sponsored by MeiraGTx UK II Ltd.
Summary of Results
The objectives of this study were to identify potential participants with genetically confirmed RPGR-associated XLRP and from this group to determine those with an interest in participating in a future interventional clinical study.
This study identified 228 of the 273 participants who had pathogenic or likely pathogenic RPGR mutations and/or were considered to have a disease-causing RPGR mutation by study sites based on clinical presentation. Of these, 208 participants were identified at screening by use of a saliva test from the sponsor’s central laboratory and 20 participants were determined to be positive from a sponsor-approved accredited local laboratory in this study.REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
21/NW/0011
Date of REC Opinion
4 Mar 2021
REC opinion
Further Information Favourable Opinion