CNGB1 and Allied Disorders
Paused
Conditions studied: Retinitis Pigmentosa Associated With CNGB1 Mutations
In brief
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.
Key facts
- Study ID
- NCT04639635
- Run by
- Columbia University
- People needed
- 20
- Starts
- 2019-03-14
- Expected to finish
- 2027-02-01
- Last updated by the study team
- 2026-04-13
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Diagnosis of CNGB1-associated RP by study physician, who are trained retinal specialists in the university clinic
- Must be able to commit to 4 follow-up study visits (3 years)
Where it is running
- Dr. Stephen H. Tsang — New York, New York, United States
- Wills Eye Hospital — Philadelphia, Pennsylvania, United States
- Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts — Paris, France
- Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich — München, Bavaria, Germany
- Eberhard Karls University Tubingen — Tübingen, Germany
- Moorfields Eye Hospital NHS Foundation Trust — London, United Kingdom
Full record on ClinicalTrials.gov
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