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Retinitis PigmentosaPhase 1/2NCT03328130

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

A Phase 1/2 study testing AAV2/5-hPDE6B in people with Retinitis Pigmentosa, run by eyeDNA Therapeutics at 1 site in France.

Terminated

Stopped early. The study ended before it was planned to and will not resume.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 13 years and older
Conditions the study is for
Retinitis Pigmentosa
What is being tested?
AAV2/5-hPDE6B
Could I receive a placebo?
No, everyone receives an active treatment
How many people
19 participants
Where
1 siteFrance
Study dates
6 Nov 2017to 30 Jun 2025
Phase
Phase 1/2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 13 years and older
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • 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

Who cannot join

  • 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
Show all 9Show fewer
  • Chronic medical conditions, cancer
  • Abnormal laboratory values
  • On immunosuppressive therapy

Trial locations and contacts

1 site in 1 country.

France1 site

  • Clinique Ophtalmologique, CHU de Nantes

    Nantes, 44093

Other trials in France

About this study

Official title: 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

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.

Read the detailed 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.

Being tested
AAV2/5-hPDE6B
Keywords
Adeno-associated virus, AAV, Retinitis Pigmentosa, PDE6B, Gene Therapy, Gene Transfer, Retinal Dystrophy, Eye Diseases, Vision Disorders, Eye Diseases, Hereditary, Retinal Diseases, Retinal Degeneration
Medical subject headings
Retinitis Pigmentosa, Retinal Dystrophies, Eye Diseases, Vision Disorders, Eye Diseases, Hereditary, Retinal Diseases, Retinal Degeneration

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • AAV2/5-hPDE6BBiological

    Subretinal administration in one eye

Study groups in NCT03328130
Study groupRoleWhat they receive
Cohort 1 - Low DoseExperimentalBiological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the lowest dose. Dose-escalation will be performed after DSMC assessment.
Receives: Biological: AAV2/5-hPDE6B
Cohort 2a - Medium DoseExperimentalBiological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the medium dose. Confirmatory dose will be determined after DSMC assessment.
Receives: Biological: AAV2/5-hPDE6B
Cohort 2b - High DoseExperimentalBiological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the highest dose. Confirmatory dose will be determined after DSMC assessment.
Receives: Biological: AAV2/5-hPDE6B
Cohort 3 - High Dose (confirmatory cohort)ExperimentalBiological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the confirmatory dose.
Receives: Biological: AAV2/5-hPDE6B
Cohort 4 - High Dose - 13 years old or older populationExperimentalBiological: AAV2/5-hPDE6B Unilateral (one eye), subretinal, administration of the confirmatory dose.
Receives: Biological: AAV2/5-hPDE6B

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Incidence of ocular and non-ocular adverse events

    Measured: 1 year + 4 years follow-up

Secondary outcomes (4)

  1. Improvement in visual function

    Improvement in visual function as assessed by mobility test

    Measured: 1 year + 4 years follow-up

  2. Improvement in visual fields

    Improvement in visual fields as assessed by visual fields measurements

    Measured: 1 year + 4 years follow-up

  3. Improvement in visual function

    Improvement in visual function as assessed by reading speed

    Measured: 1 year + 4 years follow-up

  4. Improvement in Quality of Life

    Quality of life will be measured by Quality of Life questionnaire National Eye Institute Visual Function Questionnaire (NEI VFQ-25)

    Measured: 1 year + 4 years follow-up

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted1 Nov 2017
  2. Study start6 Nov 2017
  3. Primary completion30 Jun 2025
  4. Study completion30 Jun 2025

Why it stopped: lack of financing

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Non-randomised
Intervention model
Sequential
Model description
Five successive cohorts separated by DSMC assessments
Masking
None (open label)
Enrolment
19 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03328130
Sponsor's protocol ID
HORA-PDE6B-001
Other IDs
2016-001429-16, 2016
Status last verified
Dec 2025
First submitted
5 Oct 2017
Last updated
18 Dec 2025
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 22828504

  • 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.

    PubMed 26857842

  • 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.

    PubMed 30646425

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing AAV2/5-hPDE6B in people with Retinitis Pigmentosa, run by eyeDNA Therapeutics at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: stopped early, as of the sponsor's last update on 18 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study was stopped early (reason given: lack of financing). Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Incidence of ocular and non-ocular adverse events (time frame: 1 year + 4 years follow-up). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03328130, which also lists 3 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2025.

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