Leber Congenital AmaurosisPhase 1/2RPE65NCT01496040
Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
A Phase 1/2 study testing rAAV2/4.hRPE65 in people with Leber Congenital Amaurosis, run by Nantes University Hospital at 1 site in France.
Trial summary
The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation. Read more about this study
- Who is it for?
- Ages 6 to 50 years
- Conditions the study is for
- Leber Congenital Amaurosis
- What is being tested?
- rAAV2/4.hRPE65
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2011to Aug 2014
- 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 6 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Mutations that code for abnormal RPE65 protein
- Presence of characteristic abnormalities in fundus
- Dramatic reduction of both rods ans cones ERG responses
- Low visual acuity <0.32
- inform consent signed
Who cannot join
- Patients with chronic conditions such a haematological, cardiac, renal diseases
- Patients with, within the past 6 months, a clinically significant cardiac disease or known congestive heart failure, cardiac rhytm and conduction abnormalities
- Patients with pulmonaty dysfunction
- Patients with suspected rheumatoid arthritis
- Patients with current systemic infection........
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.
- Conditions
- Leber Congenital Amaurosis
- Being tested
- rAAV2/4.hRPE65
- Medical subject headings
- Leber Congenital Amaurosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
rAAV2/4.hRPE65Drug
One injection in on eye
Cohorte 1 : 3 patients will receive one injection of up to 400 microliters of the IMP
Cohorte 2 : 3 patients will receive one injection of up to 800 microliters of the IMP.
Cohorte 3 : 3 patients under age of eighteen will receive one injection up to 400 or 800 microliters of the IMP.
| Study group | Role | What they receive |
|---|---|---|
| rAAV2/4.hRPE65 | Experimental | 3 cohortes of 3 patients each.
All the patients enrolled in the study will receive a single subretinal injection in one eye. The eye, that will be injected, will be the eye with the poorest visual acuity. Receives: Drug: rAAV2/4.hRPE65 |
What is being measured
The primary outcome is the main question the study is designed to answer.
The drug safety evaluation after administration
Biodistribution : Urine sampling and nasal secretion will be collected at several time points after administration of the gene therapy product during all the duration of hospital stay, an average of 7 days.
Measured: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days
Secondary outcomes (1)
Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients
Recording global ERG (electroretinogram)
Patient efficacy questionnaire
Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.
Measured: Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2011 (estimated)
- Study startSep 2011
- Primary completionAug 2014
- Study completionAug 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Leber Congenital AmaurosisStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Michel WEBER, Professor, Principal investigator, Nantes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01496040
- Sponsor's protocol ID
- BRD/07/08-K
- Other IDs
- 2011-000418-21
- Acronym
- RPE65
- Status last verified
- Oct 2015
- First submitted
- 24 Nov 2011
- Last updated
- 14 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Le Meur G, Lebranchu P, Billaud F, Adjali O, Schmitt S, Bezieau S, Pereon Y, Valabregue R, Ivan C, Darmon C, Moullier P, Rolling F, Weber M. Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. Mol Ther. 2018 Jan 3;26(1):256-268. doi: 10.1016/j.ymthe.2017.09.014. Epub 2017 Sep 19.
PubMed 29033008
Study at a glance
From the registry record, last updated by the sponsor on 14 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
- ClinicalTrials.gov ID
- NCT01496040
- Acronym / sponsor ID
- RPE65 / BRD/07/08-K
- Conditions
- Leber Congenital Amaurosis
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- Sep 2011
- Primary completion
- Aug 2014 (actual)
- Study completion
- Aug 2014 (actual)
- First posted
- 21 Dec 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| rAAV2/4.hRPE65 | Experimental | Drug: rAAV2/4.hRPE653 cohortes of 3 patients each. All the patients enrolled in the study will receive a single subretinal injection in one eye. The eye, that will be injected, will be the eye with the poorest visual acuity. |
Who may qualify
- Ages
- 6 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Mutations that code for abnormal RPE65 protein
- Presence of characteristic abnormalities in fundus
- Dramatic reduction of both rods ans cones ERG responses
- Low visual acuity <0.32
- inform consent signed
Key exclusion criteria (5 listed)
- Patients with chronic conditions such a haematological, cardiac, renal diseases
- Patients with, within the past 6 months, a clinically significant cardiac disease or known congestive heart failure, cardiac rhytm and conduction abnormalities
- Patients with pulmonaty dysfunction
- Patients with suspected rheumatoid arthritis
- Patients with current systemic infection........
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| rAAV2/4.hRPE65One injection in on eye Cohorte 1 : 3 patients will receive one injection of up to 400 microliters of the IMP Cohorte 2 : 3 patients will receive one injection of up to 800 microliters of the IMP. Cohorte 3 : 3 patients under age of eighteen will receive one injection up to 400 or 800 microliters of the IMP. | Drug | rAAV2/4.hRPE65 |
Primary outcome
The drug safety evaluation after administration
Time frame: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days
Biodistribution : Urine sampling and nasal secretion will be collected at several time points after administration of the gene therapy product during all the duration of hospital stay, an average of 7 days.
1 secondary outcome
Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients
Time frame: Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Sep 2026.
- Results publication: PubMed 29033008Le Meur G, Lebranchu P, Billaud F, Adjali O, Schmitt S, Bezieau S, Pereon Y, Valabregue R, Ivan C, Darmon C, Moullier P, Rolling F, Weber M. Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. Mol Ther. 2018 Jan 3;26(1):256-268. doi: 10.1016/j.ymthe.2017.09.014. Epub 2017 Sep 19.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michel WEBER, Professor principal investigator
Nantes University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing rAAV2/4.hRPE65 in people with Leber Congenital Amaurosis, run by Nantes University Hospital 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 5 inclusion and 5 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: finished, as of the sponsor's last update on 14 Sep 2026. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
The drug safety evaluation after administration (time frame: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days). 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 NCT01496040, which also lists 1 linked publication.
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 14 Sep 2026.