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

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.

Study Overview

• Status: Completed
• Conditions: Leber Hereditary Optic Neuropathy
• Intervention / Treatment: Genetic: GS010

• Study Type: Interventional
• Enrollment (Actual): 19
• Phase: Phase 2; Phase 1

Contacts and Locations

Study Locations

• France
  • Paris, France, 75012
    • CIC du CHNO DES QUINZE-VINGTS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: GS010	Genetic: GS010

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Incidence of local and general adverse events and Serious Adverse Events	Up to 48 weeks

Collaborators and Investigators

• Sponsor: GenSight Biologics
• Investigators: Principal Investigator: CATHERINE J. VIGNAL, MD, CIC CHNO DES QUINZE VINGTS

Publications and helpful links

Helpful Links

• Sponsor web site

Study record dates

Study Major Dates

• Study Start (Actual): February 13, 2014
• Primary Completion (Actual): June 25, 2020
• Study Completion (Actual): June 25, 2020

Study Registration Dates

• First Submitted: February 13, 2014
• First Submitted That Met QC Criteria: February 14, 2014
• First Posted (Estimated): February 17, 2014

Study Record Updates

• Last Update Posted (Actual): March 2, 2026
• Last Update Submitted That Met QC Criteria: February 27, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Eye Diseases; Neurodegenerative Diseases; Eye Diseases, Hereditary; Heredodegenerative Disorders, Nervous System; Optic Nerve Diseases; Cranial Nerve Diseases; Mitochondrial Diseases; Optic Atrophies, Hereditary; Optic Atrophy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Optic Atrophy, Hereditary, Leber
• Other Study ID Numbers: GS-LHON/CLIN/01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED