Study to genetically confirm CNGA3- and CNGB3-Associated Achromatopsia
Research type
Research Study
Full title
Study to Determine Presence of Genetically Confirmed CNGA3- and CNGB3-Associated Achromatopsia Patients at Investigational Sites for Potential Participation in Future Clinical Research Studies
IRAS ID
295066
Contact name
Graeme Black
Contact email
Sponsor organisation
Janssen Cilag International NV
Duration of Study in the UK
0 years, 4 months, 25 days
Research summary
The objective of this exploratory study is to identify and characterise potential participants who might be eligible and are interested in participating in potential future interventional clinical research studies in patients with genetically confirmed CNGA3- and CNGB3-Associated Achromatopsia. This is a multicentre, non-interventional study conducted at research sites globally, where sites will enrol up to 60 participants into this study. The overall duration of the enrolment period will be up to 12 months. The study will be considered completed after the last participant enrolled completes all study procedures. All participants must sign an informed consent form prior to having any study procedures performed. Participants will also provide agreement that, if potentially eligible, they can be contacted for participation in future clinical studies. The study doctor or qualified designee will perform a medical record review to screen the participant’s medical history for a diagnosis consistent with Achromatopsia. Participants with a clinical diagnosis of Achromatopsia who meet the other inclusion criteria will be enrolled into the study. A genetic testing sample will be taken at Visit 1. Test kits will be provided to the research sites by the central genetic laboratory. The genetic testing sample may also be collected by the participant at home (the research site will send the test kit and instructions for sample collection and shipment). Participants will be informed of the genetic testing result at Visit 2. Participants with confirmed CNGA3 or CNGB3 variants associated with Achromatopsia will perform additional assessments (visual acuity, contrast sensitivity and optical coherence tomography) to characterize their disease state. Participant baseline information, genetic testing results, interest to participate in future clinical trials and results of clinical assessments will be captured in the source documentation and electronic case report form.
REC name
South Central - Oxford A Research Ethics Committee
REC reference
21/SC/0088
Date of REC Opinion
29 Apr 2021
REC opinion
Further Information Favourable Opinion