Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene

Last updated: March 5, 2024
Sponsor: eyeDNA Therapeutics
Overall Status: Active - Recruiting

Phase

1/2

Condition

Retinitis Pigmentosa

Posterior Uveitis

Eye Disorders/infections

Treatment

AAV2/5-hPDE6B

Clinical Study ID

NCT03328130
HORA-PDE6B-001
2016-001429-16
  • Ages > 13
  • All Genders

Study Summary

The study is a Phase I/II, monocentric, open-label, dose-ranging safety and efficacy gene therapy intervention by subretinal administration of AAV2/5-hPDE6B.

At least twelve patients 18 years of age or older, within four consecutive cohorts of patients, will be recruited.

Then at least four patients 13 years of age or older, within a fifth cohort, will be recruited.

Eligibility Criteria

Inclusion

Key Inclusion Criteria:

  • Clinical and molecular diagnosis of retinitis pigmentosa caused by defect in PDE6Bgene without other syndromic manifestations
  • Aged above 13 years
  • Ability to give informed consent

Exclusion

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 orgrading 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 antimicrobialagents
  • Chronic medical conditions, cancer
  • Abnormal laboratory values
  • On immunosuppressive therapy

Study Design

Total Participants: 23
Treatment Group(s): 1
Primary Treatment: AAV2/5-hPDE6B
Phase: 1/2
Study Start date:
November 06, 2017
Estimated Completion Date:
December 31, 2029

Study Description

Retinitis pigmentosa (RP) is a disease where part of the eye (the retina) is degenerating over time. Patients initially present with night blindness, and later in life experience loss of central vision which leads to blindness. RP is a highly variable disorder with some patients developing symptomatic visual loss in childhood whereas others remain asymptomatic until mid-adulthood. There are no treatments available.

This study focuses on the form of RP caused by mutations (modifications) in the genetic information necessary to make the protein called rod cGMP phosphodiesterase 6 β subunit (or PDE6β). Clinical diagnosis is made by function tests of the eye and confirmed using a specific method called molecular testing to verify that the PDE6B gene is not correct.

This study uses a gene therapy vector inspired from an adeno-associated virus (AAV) called AAV2/5-hPDE6B. This vector intends to supply to the target cells the PDE6B therapeutic gene that is not functioning properly in the cell. The AAV parts of the gene therapy vector work as a vehicle to deliver the normal human PDE6B gene into the cells of the retina.

Connect with a study center

  • Clinique Ophtalmologique, CHU de Nantes

    Nantes, 44093
    France

    Active - Recruiting

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