Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
GenSight Biologics Identifier:
First received: February 13, 2014
Last updated: November 17, 2015
Last verified: November 2015
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.

Condition Intervention Phase
Leber Hereditary Optic Neuropathy
Genetic: GS010
Phase 1
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety Study
Intervention Model: Single Group Assignment
Masking: Open Label
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

Resource links provided by NLM:

Further study details as provided by GenSight Biologics:

Primary Outcome Measures:
  • Incidence of local and general adverse events and Serious Adverse Events [ Time Frame: Up to 48 weeks ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 21
Study Start Date: February 2014
Estimated Study Completion Date: February 2019
Estimated Primary Completion Date: March 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: GS010 Genetic: GS010


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion Criteria:

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

Exclusion Criteria:

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


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

  Contacts and Locations
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Please refer to this study by its identifier: NCT02064569

Paris, France, 75012
Sponsors and Collaborators
GenSight Biologics
  More Information

Additional Information:
No publications provided

Responsible Party: GenSight Biologics Identifier: NCT02064569     History of Changes
Other Study ID Numbers: GS-LHON/CLIN/01
Study First Received: February 13, 2014
Last Updated: November 17, 2015
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

Additional relevant MeSH terms:
Optic Atrophy, Hereditary, Leber
Optic Nerve Diseases
Cranial Nerve Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolic Diseases
Mitochondrial Diseases
Nervous System Diseases
Neurodegenerative Diseases
Optic Atrophies, Hereditary
Optic Atrophy processed this record on November 30, 2015