Gene therapy for retinitis pigmentosa caused by PDE6B mutations
Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression
This study is testing a new gene therapy to see if it can safely improve vision for people with retinitis pigmentosa caused by PDE6B gene mutations.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Enrollment | 23 (estimated) |
| Ages | 13 Years and up |
| Sex | All |
| Sponsor | eyeDNA Therapeutics Industry-sponsored |
| Locations | 1 site (Nantes) |
| Trial ID | NCT03328130 on ClinicalTrials.gov |
What this trial studies
This Phase I/II clinical trial investigates the safety and efficacy of a gene therapy intervention using an adeno-associated virus (AAV2/5-hPDE6B) for patients with retinitis pigmentosa due to mutations in the PDE6B gene. The study will recruit at least twelve patients aged 18 and older, along with a fifth cohort of at least four patients aged 13 and older. Participants will receive subretinal administration of the gene therapy vector, which aims to deliver a functional copy of the PDE6B gene to retinal cells. The trial will assess the treatment's safety profile and its potential to improve vision in affected individuals.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 13 years and older with a clinical and molecular diagnosis of retinitis pigmentosa caused by PDE6B gene mutations.
Not a fit: Patients with other syndromic manifestations of retinitis pigmentosa or those with significant ocular conditions that prevent reliable evaluation may not benefit from this study.
Why it matters
Potential benefit: If successful, this gene therapy could provide a novel treatment option for patients with retinitis pigmentosa, potentially restoring or preserving vision.
How similar studies have performed: While gene therapy for retinal diseases is a developing field, this specific approach targeting PDE6B mutations is novel and has not been extensively tested in previous studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Key Inclusion Criteria: * Clinical and molecular diagnosis of retinitis pigmentosa caused by defect in PDE6B gene without other syndromic manifestations * Aged above 13 years * Ability to give informed consent Key Exclusion Criteria: * Previous ocular surgery or thermal laser within 6 months before the surgery * Lens opacities or obscured ocular media upon recruitment such reliable evaluation or grading of the posterior segment cannot be performed * Known serious allergies to the fluorescein dye used in angiography, to the mydriatic, steroidal and non-steroidal eye drops * Participation in another clinical trial with an investigational agent * Enrolled or being enrolled in another gene therapy clinical trial * Active, extraocular infection requiring the prolonged or chronic use of antimicrobial agents * Chronic medical conditions, cancer * Abnormal laboratory values * On immunosuppressive therapy
Where this trial is running
Nantes
- Clinique Ophtalmologique, CHU de Nantes — Nantes, France (Recruiting)
Study contacts
- Study coordinator: Medical Director / Chief Development Officer, MD
- Email: contact@eyednatx.com
- Phone: 01 81 69 87 70
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.