Observing the progression of retinitis pigmentosa linked to CNGB1 mutations
Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
This study looks at how retinitis pigmentosa caused by CNGB1 gene mutations changes over time in patients to help develop future treatments that might prevent blindness.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 6 sites (New York, New York and 5 other locations) |
| Trial ID | NCT04639635 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the natural progression of retinitis pigmentosa (RP) associated with mutations in the CNGB1 gene. It aims to gather data on patients diagnosed with CNGB1-RP through a series of follow-up visits over three years. By monitoring the disease's progression, the study seeks to inform future gene therapy treatments that could potentially prevent blindness in affected individuals. The research is conducted by trained retinal specialists at various prominent institutions.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with CNGB1-associated retinitis pigmentosa who can commit to multiple follow-up visits.
Not a fit: Patients with retinitis pigmentosa not associated with CNGB1 mutations may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and future treatment options for patients with CNGB1-related retinitis pigmentosa.
How similar studies have performed: Other studies focusing on the natural progression of genetic retinal diseases have shown promise, indicating that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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)
Where this trial is running
New York, New York and 5 other locations
- Dr. Stephen H. Tsang — New York, New York, United States (Recruiting)
- Wills Eye Hospital — Philadelphia, Pennsylvania, United States (Recruiting)
- Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts — Paris, France (Recruiting)
- Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich — München, Bavaria, Germany (Recruiting)
- Eberhard Karls University Tubingen — Tuebingen, Germany (Recruiting)
- Moorfields Eye Hospital NHS Foundation Trust — London, United Kingdom (Not_yet_recruiting)
Study contacts
- Principal investigator: Stephen Tsang, MD, PhD — Columbia University
- Study coordinator: Amiela Canin
- Email: arc2282@cumc.columbia.edu
- Phone: 319-471-0920
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.