Leber Hereditary Optic NeuropathyPhase 1/2NCT02064569
Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients
A Phase 1/2 study testing GS010 in people with Leber Hereditary Optic Neuropathy, run by GenSight Biologics at 1 site in France.
Trial summary
The purpose of this study is to evaluate the safety and tolerability profile of ascending doses of GS010 in Leber Hereditary Optic Neuropathy (LHON) patients. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Leber Hereditary Optic Neuropathy
- What is being tested?
- GS010
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 19 participants
- Where
- 1 siteFrance
- Study dates
- 13 Feb 2014to 25 Jun 2020
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Documented diagnosis of LHON based on a genetic test confirming the presence of the G11778A mutation in the mitochondrial ND4
- Age 18 years old or older at the time of study entry (informed consent signature)
- Visual acuity ≤ 1/10 of the less functional eye
Who cannot join
- Any known allergy or hypersensibility to one of the product used during the trial
- Contraindication to IVT surgery (anaemia Hb <8g/dl, severe cardiovascular disease, severe coagulopathy…)
- Disorder of the ocular humors and of the internal retina involving visual disability
- Glaucoma
- Presence of other pathology whose symptoms or associated treatments might affect the retina or the optic nerve Vascular retinal occlusion
- Narrow angle contra-indicating pupillary dilation
- Other cause of optic neuropathy (inflammatory conditions or exposure to toxins...)
- Patients presenting known mutation of other genes implicated in pathological retinal conditions
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene
The purpose of this study is to evaluate the safety and tolerability profile of ascending doses of GS010 in Leber Hereditary Optic Neuropathy (LHON) patients.
- Conditions
- Leber Hereditary Optic Neuropathy
- Being tested
- GS010
- Medical subject headings
- Optic Atrophy, Hereditary, Leber
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GS010Genetic
| Study group | Role | What they receive |
|---|---|---|
| GS010 | Experimental | Not described Receives: Genetic: GS010 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of local and general adverse events and Serious Adverse Events
Measured: Up to 48 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2014 (estimated)
- Study start13 Feb 2014
- Primary completion25 Jun 2020
- Study completion25 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leber Hereditary Optic NeuropathyStudies of the same condition, open and under way.
- 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
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 19 participants (actual)
Sponsor and investigators
- Lead sponsor
- GenSight Biologics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- CATHERINE J. VIGNAL, MD, Principal investigator, CIC CHNO DES QUINZE VINGTS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02064569
- Sponsor's protocol ID
- GS-LHON/CLIN/01
- Status last verified
- Feb 2026
- First submitted
- 13 Feb 2014
- Last updated
- 2 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene
- ClinicalTrials.gov ID
- NCT02064569
- Acronym / sponsor ID
- GS-LHON/CLIN/01
- Conditions
- Leber Hereditary Optic Neuropathy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 19 participants (actual)
- Lead sponsor
- GenSight BiologicsIndustry (pharma, biotech, devices)
- Study start
- 13 Feb 2014 (actual)
- Primary completion
- 25 Jun 2020 (actual)
- Study completion
- 25 Jun 2020 (actual)
- First posted
- 17 Feb 2014 (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 this study is to evaluate the safety and tolerability profile of ascending doses of GS010 in Leber Hereditary Optic Neuropathy (LHON) patients.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GS010 | Experimental | Genetic: GS010 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Documented diagnosis of LHON based on a genetic test confirming the presence of the G11778A mutation in the mitochondrial ND4
- Age 18 years old or older at the time of study entry (informed consent signature)
- Visual acuity ≤ 1/10 of the less functional eye
Key exclusion criteria (8 listed)
- Any known allergy or hypersensibility to one of the product used during the trial
- Contraindication to IVT surgery (anaemia Hb <8g/dl, severe cardiovascular disease, severe coagulopathy…)
- Disorder of the ocular humors and of the internal retina involving visual disability
- Glaucoma
- Presence of other pathology whose symptoms or associated treatments might affect the retina or the optic nerve Vascular retinal occlusion
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 |
|---|---|---|
| GS010 | Genetic | GS010 |
Primary outcome
Incidence of local and general adverse events and Serious Adverse Events
Time frame: Up to 48 weeks
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 2 Mar 2026.
- Sponsor web siteLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
CATHERINE J. VIGNAL, MD principal investigator
CIC CHNO DES QUINZE VINGTS
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 GS010 in people with Leber Hereditary Optic Neuropathy, run by GenSight Biologics 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 8 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 2 Mar 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?
Incidence of local and general adverse events and Serious Adverse Events (time frame: Up to 48 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 2 Mar 2026.