Stopped: IRB renewal lapsed
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.
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See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
We will be looking to identify what the best outcome measurements will be for CNGB1-RP in order to use these measurements in a future clinical trial.
Timeframe: 2 days, 1 time per year, for 3 years
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
Timeframe: 1 time per year, for 3 years
Full-field ERG (ISCEV Protocol)
Timeframe: 1 time per year, for 3 years
Optical Coherence Tomography (OCT)
Timeframe: 1 time per year, for 3 years
Fundus Autofluorescence (FAF)
Timeframe: 1 time per year, for 3 years
Near-infrared fundus autofluorescence (NIR-AF)
Timeframe: 1 time per year, for 3 years
Quantitative Fundus Autofluorescence (qAF)
Timeframe: 1 time per year, for 3 years