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. Author manuscript; available in PMC: 2021 Jun 1.
Published in final edited form as: J Intern Med. 2020 Apr 27;287(6):685–697. doi: 10.1111/joim.13055

Table 2:

Current Ongoing Clinical Trials for Mitochondrial Allotopic Gene Replacement Therapy for LHON

Clinical Trial Study Disease Gene/Treatment Phase Endpoint Sponsor
NCT02652767 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation (RESCUE) LHON rAAV2/2-ND4, intravitreal injection Phase 3 Visual Acuity, High Resolution Spectral Domain Optical Coherence Tomography to Measure Optic Nerve RNFL Thickness/Volume, Color Hue Vision Test, Immune Response Gensight Biologics, Paris, France
NCT03293524 Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year (REFLECT) LHON GS010 Phase 3 Visual acuity, Adverse Effects Gensight Biologics, Paris, France
NCT02064569 Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients LHON GS010 (rAAV2/2-ND4) Phase 1 Safety and Tolerability Gensight Biologics, Paris, France
NCT03406104 RESCUE and REVERSE Long-term Follow-up (RESCUE/REVERSE) LHON GS010 Phase 3 Adverse Events, Visual Acuity, GCL Thickness/Volume Gensight Biologics, Paris, France
NCT02161380 Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber’s Hereditary Optic Neuropathy (LHON) LHON scAAV2-P1ND4v2 (various titers) Phase 1 Toxicity University of Miami, Miami, FL USA
NCT03153293 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber’s Hereditary Optic Neuropathy LHON rAAV2-ND4 Phase 2/3 BCVA, RNFL Thickness/Volume, Liver and Kidney Function in Plasma Huazhong University of Science and Technology, Wuhan, China
NCT03153293 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber’s Hereditary Optic Neuropathy LHON rAAV2-ND4 Phase 2 Visual acuity, RNFL Thickness/Volume, VEP, Liver and Kidney Function in Plasma Huazhong University of Science and Technology, Wuhan, China

LHON: Leber’s Hereditary Optic Neuropathy; RNFL: Retinal Nerve Fiber Layer; GCL: Ganglion Cell Layer; BCVA: Best Corrected Visual Acuity; VEP: Visual Evoked Potential