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

NCT ID: NCT03328130

Last Updated: 2025-12-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

PHASE1/PHASE2

Total Enrollment

19 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-11-06

Study Completion Date

2025-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Retinitis Pigmentosa

Keywords

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Adeno-associated virus AAV Retinitis Pigmentosa PDE6B Gene Therapy Gene Transfer Retinal Dystrophy Eye Diseases Vision Disorders Eye Diseases, Hereditary Retinal Diseases Retinal Degeneration

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Five successive cohorts separated by DSMC assessments
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cohort 1 - Low Dose

Biological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the lowest dose. Dose-escalation will be performed after DSMC assessment.

Group Type EXPERIMENTAL

AAV2/5-hPDE6B

Intervention Type BIOLOGICAL

Subretinal administration in one eye

Cohort 2a - Medium Dose

Biological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the medium dose. Confirmatory dose will be determined after DSMC assessment.

Group Type EXPERIMENTAL

AAV2/5-hPDE6B

Intervention Type BIOLOGICAL

Subretinal administration in one eye

Cohort 2b - High Dose

Biological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the highest dose. Confirmatory dose will be determined after DSMC assessment.

Group Type EXPERIMENTAL

AAV2/5-hPDE6B

Intervention Type BIOLOGICAL

Subretinal administration in one eye

Cohort 3 - High Dose (confirmatory cohort)

Biological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the confirmatory dose.

Group Type EXPERIMENTAL

AAV2/5-hPDE6B

Intervention Type BIOLOGICAL

Subretinal administration in one eye

Cohort 4 - High Dose - 13 years old or older population

Biological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the confirmatory dose.

Group Type EXPERIMENTAL

AAV2/5-hPDE6B

Intervention Type BIOLOGICAL

Subretinal administration in one eye

Interventions

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AAV2/5-hPDE6B

Subretinal administration in one eye

Intervention Type BIOLOGICAL

Eligibility Criteria

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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

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
Minimum Eligible Age

13 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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eyeDNA Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Clinique Ophtalmologique, CHU de Nantes

Nantes, , France

Site Status

Countries

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France

References

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Petit L, Lheriteau E, Weber M, Le Meur G, Deschamps JY, Provost N, Mendes-Madeira A, Libeau L, Guihal C, Colle MA, Moullier P, Rolling F. Restoration of vision in the pde6beta-deficient dog, a large animal model of rod-cone dystrophy. Mol Ther. 2012 Nov;20(11):2019-30. doi: 10.1038/mt.2012.134. Epub 2012 Jul 24.

Reference Type RESULT
PMID: 22828504 (View on PubMed)

Pichard V, Provost N, Mendes-Madeira A, Libeau L, Hulin P, Tshilenge KT, Biget M, Ameline B, Deschamps JY, Weber M, Le Meur G, Colle MA, Moullier P, Rolling F. AAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6beta-deficient Dogs. Mol Ther. 2016 May;24(5):867-76. doi: 10.1038/mt.2016.37. Epub 2016 Feb 9.

Reference Type RESULT
PMID: 26857842 (View on PubMed)

Palmowski-Wolfe A, Stingl K, Habibi I, Schorderet D, Tran HV. Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. Klin Monbl Augenheilkd. 2019 Apr;236(4):562-567. doi: 10.1055/a-0811-5480. Epub 2019 Jan 15.

Reference Type DERIVED
PMID: 30646425 (View on PubMed)

Other Identifiers

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HORA-PDE6B-001

Identifier Type: -

Identifier Source: org_study_id

2016-001429-16

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id