74765288CEY0004 protocol 1
Research type
Research Study
Full title
A Prospective Non-interventional Study to Support the Reproducibility and Convergent Validity of Novel Clinical Outcome Assessments Developed for Studies in Adults and Children with Achromatopsia Associated With Variants in CNGA3 and CNGB3 Genes
IRAS ID
324084
Contact name
Angelique Quistin
Contact email
Sponsor organisation
Janssen Cilag International NV
Duration of Study in the UK
1 years, 6 months, 6 days
Research summary
The purpose of this study is to determine whether the instruments and questionnaires being tested in the study are able to measure vision reliably, and if they may be used to measure if a treatment works in future studies in participants with Achromatopsia associated with genetically confirmed CNGA3 or CNGB3 variants.
About 75 participants will take part in this study in the United Kingdom at 1 site. Participants in the study will be in it for about 12-16 months and will visit the site approximately 4 times.The overall duration of the enrolment period will be up to 6 months. The study will be considered completed after the last participant enrolled completes all study visits expected 12 months after the last patient is enroled. 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. The participants who have not been previously genetically tested for this condition will undergo genetic testing through either a saliva or blood sample.
Participant baseline information, genetic testing results, and results of clinical assessments will be captured in the source documentation and electronic case report form.REC name
London - Fulham Research Ethics Committee
REC reference
23/PR/0028
Date of REC Opinion
12 Apr 2023
REC opinion
Further Information Favourable Opinion