26 completed, 12 recruiting, 6 terminated, 5 active not recruiting. 21 Phase 2, 12 Phase 1, 11 Phase 3, 7 Not applicable, 1 Phase 4.
Follow Optic Atrophies, Hereditary: new trials by email Literature Review of Optic Atrophies, Hereditary trials Research Report on Optic Atrophies, Hereditary
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant | Recruiting | Ludwig-Maximilians - University of Munich | 50 | 2026-07-16 | 2026-07-28 | |
| Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy Nicotinamide treatment - Leber Hereditary Optic Neuropathy (LHON), Leber's Hereditary Optic Neuropathy (LHON) | Phase 1 | Not yet recruiting | University Hospital, Angers | 13 | 2026-04-01 | 2025-12-18 |
| Does Recessive Optic Atrophy Due to WFS1 Exist? analyse study - Wolfram Syndrome 1, Optic Atrophies, Hereditary | Not yet recruiting | Hôpital Necker-Enfants Malades | 45 | 2026-02-01 | 2026-01-13 | |
| Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients GS010 High dose, GS010 Low dose - Leber Hereditary Optic Disease | Phase 2 | Recruiting | GenSight Biologics | 14 | 2026-01-22 | 2026-03-02 |
| Mechanisms of Fecal Incontinence in Wolfram Syndrome Retrospective case-control analysis - Wolfram Syndrome, Fecal Incontinence | Not yet recruiting | Hôpital Necker-Enfants Malades | 20 | 2025-12-20 | 2025-12-31 | |
| Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study Neuro-Ophthalmology, Optic Neuropathies | Not yet recruiting | Barboni | 70 | 2025-10-01 | 2025-07-20 | |
| Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle) PYC-001 - OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy | Phase 1 / Phase 2 | Recruiting | PYC Therapeutics | 24 | 2025-09-30 | 2026-06-29 |
| Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION) sepofarsen, Placebo IVT - Leber Congenital Amaurosis 10, Blindness | Phase 3 | Recruiting | Laboratoires Thea | 32 | 2025-06-04 | 2026-10-21 |
| SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew) PYC-001 - OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy | Phase 1 | Active not recruiting | PYC Therapeutics | 18 | 2024-10-31 | 2026-09-17 |
| A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation rAAV2-ND4, Sham (No Treatment) - Leber Hereditary Optic Neuropathy (LHON) | Phase 3 | Active not recruiting | Wuhan Neurophth Biotechnology Limited Company | 95 | 2024-09-19 | 2026-02-12 |
| Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant | Terminated | PYC Therapeutics | 1 | 2024-02-28 | 2025-03-14 | |
| Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1 Tirzepatide - Wolfram Syndrome | Phase 2 | Unknown | Ospedale San Raffaele | 10 | 2024-01-01 | 2024-02-22 |
| Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND1 Mutations NFS-02 Injection - Leber Hereditary Optic Neuropathy (LHON) | Phase 1 / Phase 2 | Terminated | Neurophth Therapeutics Inc | 11 | 2023-08-15 | 2024-09-20 |
| Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND4 Mutations NR082 Injection, Injection needle - Leber Hereditary Optic Neuropathy (LHON) | Phase 1 / Phase 2 | Active not recruiting | Neurophth Therapeutics Inc | 12 | 2023-05-22 | 2024-09-04 |
| Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT) Optical coherent tomography - Healthy Subjects, Leber Hereditary Optic Neuropathy | Not applicable | Recruiting | Hôpital Necker-Enfants Malades | 90 | 2023-03-10 | 2025-11-18 |
| AMX0035 in Adult Patients With Wolfram Syndrome AMX0035 - Wolfram Syndrome | Phase 2 | Active not recruiting | Amylyx Pharmaceuticals Inc. | 12 | 2023-03-03 | 2026-04-14 |
| Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection Leber's Hereditary Optic Neuropathy (LHON) | Completed | Argo Sante | 12 | 2022-08-04 | 2024-02-06 | |
| Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome Depakine - Wolfram Syndrome | Phase 2 | Unknown | Centre d'Etude des Cellules Souches | 23 | 2021-11-26 | 2023-11-28 |
| Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy NR082 injection, Sham Injection - Leber's Hereditary Optic Neuropathy (LHON) | Phase 2 / Phase 3 | Recruiting | Wuhan Neurophth Biotechnology Limited Company | 102 | 2021-06-18 | 2022-11-14 |
| Monogenic Diabetes Misdiagnosed as Type 1 None AHT - Diabetes Mellitus, Type 1, Monogenic Diabetes | Recruiting | McGill University Health Centre/Research Institute of the McGill University Health Centre | 5000 | 2019-09-24 | 2024-12-10 |
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Optic Atrophy, Hereditary, Leber (44) · Wolfram Syndrome (12) · Eye Diseases (11) · Mitochondrial Diseases (11) · Eye Diseases, Hereditary (9) · Optic Atrophy, Autosomal Dominant (8) · Diabetes Mellitus (7) · Genetic Diseases, Inborn (6) · Neurodegenerative Diseases (6) · Nervous System Diseases (5) · Optic Atrophy (5) · Optic Nerve Diseases (5) · Optic Neuropathy, Ischemic (5) · Retinal Diseases (5)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (63) · Cranial Nerve Diseases (63) · Heredodegenerative Disorders, Nervous System (63) · Metabolic Diseases (63) · Nutritional and Metabolic Diseases (63) · Nervous System Diseases (58) · Optic Atrophy (58) · Optic Nerve Diseases (58) · Genetic Diseases, Inborn (57) · Neurodegenerative Diseases (57) · Eye Diseases, Hereditary (54) · Eye Diseases (52) · Mitochondrial Diseases (40) · Congenital Abnormalities (18)
idebenone (5) · salicylhydroxamic acid (3) · Cysteamine (2) · Valproic Acid (2) · 4-phenylbutyric acid (1) · Curcumin (1) · Cyclosporine (1) · Dantrolene (1) · Exenatide (1) · Magnetic Resonance Imaging (1) · Matrilin Proteins (1) · Needles (1) · Ophthalmic Solutions (1) · Patient Reported Outcome Measures (1) · RNA, Small Interfering (1)
GenSight Biologics (8) · Santhera Pharmaceuticals (8) · Washington University School of Medicine (4) · Hôpital Necker-Enfants Malades (3) · Laboratoires Thea (3) · PYC Therapeutics (3) · Amgen (2) · Neurophth Therapeutics Inc (2) · University Hospital, Angers (2) · Wuhan Neurophth Biotechnology Limited Company (2) · Amylyx Pharmaceuticals Inc. (1) · Argo Sante (1) · Barboni (1) · Bin Li (1) · Byron Lam (1)
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PMID 36449262, PMID 34108929, PMID 26606867, PMID 26892229, PMID 1463007, PMID 1674640, PMID 18441370, PMID 18441371, PMID 18774912, PMID 1928099, PMID 21467183, PMID 21788663, PMID 22612072, PMID 22644094, PMID 23049087, PMID 23063736, PMID 23263355, PMID 23388409, PMID 24396955, PMID 24398093, PMID 24457989, PMID 25186535, PMID 25342621, PMID 25950380, PMID 26025012, PMID 26199618, PMID 26604914, PMID 26742931, PMID 27386292, PMID 27426279, PMID 27459537, PMID 27631475, PMID 27749593, PMID 27857759, PMID 27904503, PMID 28647203, PMID 29270420, PMID 29454364, PMID 30050918, PMID 30194931, PMID 30559420, PMID 30878986, PMID 31119146, PMID 31215818, PMID 31237206, PMID 31620478, PMID 3201231, PMID 32039263, PMID 32231088, PMID 33451738
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