Retinitis Pigmentosa Associated With CNGB1 Mutations Clinical Trial
Official title:
Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
| NCT number | NCT04639635 |
| Other study ID # | AAAS1160 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | March 14, 2019 |
| Est. completion date | January 2026 |
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.
| Status | Recruiting |
| Enrollment | 20 |
| Est. completion date | January 2026 |
| Est. primary completion date | January 2025 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: - 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) |
| Country | Name | City | State |
|---|---|---|---|
| France | Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts | Paris | |
| Germany | Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich | München | Bavaria |
| Germany | Eberhard Karls University Tubingen | Tuebingen | |
| United Kingdom | Moorfields Eye Hospital NHS Foundation Trust | London | |
| United States | Dr. Stephen H. Tsang | New York | New York |
| United States | Wills Eye Hospital | Philadelphia | Pennsylvania |
| Lead Sponsor | Collaborator |
|---|---|
| Columbia University | La Fondation Voir et Entendre, Ludwig-Maximilians - University of Munich, Michigan State University, Moorfields Eye Hospital NHS Foundation Trust, Universität Tübingen, Wills Eye |
United States, France, Germany, United Kingdom,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Other | Demographics/medical history | 1 time only at baseline | ||
| Other | Concomitant medications/adverse events | 1 time only at baseline | ||
| Primary | 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. | Both structural imaging and functional tests will be used to characterize the natural history progression of CNGB1-RP. | 2 days, 1 time per year, for 3 years | |
| Primary | Medmont Dark Adapted Chromatic (DAC) Automated Perimeter | 1 time per year, for 3 years | ||
| Primary | Full-field ERG (ISCEV Protocol) | 1 time per year, for 3 years | ||
| Primary | Optical Coherence Tomography (OCT) | 1 time per year, for 3 years | ||
| Primary | Fundus Autofluorescence (FAF) | 1 time per year, for 3 years | ||
| Primary | Near-infrared fundus autofluorescence (NIR-AF) | 1 time per year, for 3 years | ||
| Primary | Quantitative Fundus Autofluorescence (qAF) | 1 time per year, for 3 years | ||
| Secondary | Best-corrected Visual Acuity (BCVA) | 1 time per year, for 3 years | ||
| Secondary | Complete Ophthalmic Exam | 2 time per year, for 3 years | ||
| Secondary | Color Fundus Photos | 1 time per year, for 3 years | ||
| Secondary | MAIA Microperimetry | if available | 1 time per year, for 3 years | |
| Secondary | NIDEK Microperimetry | if available | 1 time per year, for 3 years | |
| Secondary | Goldman Kinetic Visual Field | 1 time per year, for 3 years | ||
| Secondary | Light-adapted Static Perimetry | 1 time per year, for 3 years | ||
| Secondary | Panel D-15 Colour Vision (desat.) | 1 time per year, for 3 years | ||
| Secondary | Dark-adapted Chromatic Perimetry | 1 time per year, for 3 years | ||
| Secondary | Full-field Stimulus Testing (FST) | Optional | 1 time per year, for 3 years |