NCT05820152

Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND1 Mutations

Terminated Phase 1, PHASE2 Last updated 20 September 2024

What this trial tests

Phase 1, PHASE2 trial testing NFS-02 Injection in Leber Hereditary Optic Neuropathy (LHON) in 11 participants. Terminated before completion.

Timeline

15 August 2023

Primary endpoint
24 June 2024

24 June 2024

Quick facts

Lead sponsor	Neurophth Therapeutics Inc
Phase	Phase 1, PHASE2
Status	Terminated
Study type	INTERVENTIONAL
Allocation	na
Design	sequential
Masking	none
Primary purpose	treatment
Enrollment	11
Start date	15 August 2023
Primary completion	24 June 2024
Estimated completion	24 June 2024
Sites	4 locations across China, United States

Drugs / interventions tested

• NFS-02 Injection — full drug profile →

Conditions studied

• Leber Hereditary Optic Neuropathy (LHON) — all drugs for Leber Hereditary Optic Neuropathy (LHON) →

Sponsor

Neurophth Therapeutics Inc — full company profile →

Who can join

Adults 18 to 75, any sex, with Leber Hereditary Optic Neuropathy (LHON). Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The objective of this clinical study is to evaluate the safety, tolerability and preliminary efficacy of NFS-02 in the treatment of LHON caused by mitochondrial ND1 gene mutation. This study will enroll subjects aged ≥ 18 years old and ≤ 75 years old to receive a single unilateral intravitreal (IVT) injection of NFS-02 to evaluate its safety, tolerability and preliminary efficacy. The clinical manifestations of all subjects are to be reduced visual acuity caused by LHON associated with ND1 mutation, with laboratory test showing G3460A mutation (a CLIA-certified laboratory) and reduced visual acuity lasted for \> 6 months and \< 10 years.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
   Wen H, Deng H, Li B, Chen J, et al · · 2025 · cited 111× · PMID 39788934 · DOI 10.1038/s41392-024-02044-3
2. Current developments of gene therapy in human diseases.
   Liu F, Li R, Zhu Z, Yang Y, et al · · 2024 · cited 17× · PMID 39156766 · DOI 10.1002/mco2.645
3. Emerging Multi-omic Approaches to the Molecular Diagnosis of Mitochondrial Disease and Available Strategies for Treatment and Prevention.
   Khaghani F, Hemmati M, Ebrahimi M, Salmaninejad A. · · 2024 · cited 11× · PMID 39323625 · DOI 10.2174/0113892029308327240612110334
4. Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.
   Klopstock T, Zeng LH, Priglinger C. · · 2025 · cited 10× · PMID 39963374 · DOI 10.1515/medgen-2024-2066
5. Genetic engineering and the eye.
   Murphy R, Martin KR. · · 2025 · cited 2× · PMID 39516652 · DOI 10.1038/s41433-024-03441-2
6. Adeno-Associated Virus Vectors in Retinal Gene Therapy: Challenges, Innovations, and Future Directions.
   Huang J, Li J, Xu X, Li K. · · 2025 · cited 1× · PMID 40723812 · DOI 10.3390/biom15070940
7. Mitochondrial dysfunction in neurodegenerative disorders: mechanisms and therapeutic advances.
   Tong Y, He JN, Zhou L, Zhang J, et al · · 2026 · PMID 42204067 · DOI 10.1186/s43556-026-00480-x
8. Mitochondrial ROS in Retinal Neurodegeneration: Thresholds, Quality Control Failure, and Precision Therapeutic Windows.
   Kaštelan S, Antunica AG, Konjevoda S, Tomić Z, et al · · 2026 · PMID 41897380 · DOI 10.3390/biom16030445