RecruitingNot applicableNCT03011541
Mitochondrial
Leber Hereditary Optic Neuropathy
Also known as LHON, Leber optic atrophy, mitochondrial optic neuropathy
Leber hereditary optic neuropathy is a maternally inherited mitochondrial disease causing acute or subacute painless loss of central vision due to selective degeneration of retinal ganglion cells and the optic nerve. The three primary mutat
ORPHA:104 ↗Gene MT-ND4Gene MT-ND1Gene MT-ND6 (mtDNA)Prevalence Approximately 1 in 25,000–50,000Onset Young adult (typically 15–35 years); predominantly male
9
studies recruiting now
as of 7 Sept 2026
49
studies registered in total
as of 7 Sept 2026
11
countries with a recruiting site
as of 7 Sept 2026
24 Dec 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT06891443
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingPhase 2NCT07303296
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 9 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: LHON Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy is a maternally inherited mitochondrial disease causing acute or subacute painless loss of central vision due to selective degeneration of retinal ganglion cells and the optic nerve. The three primary mutations (m.11778G>A in MT-ND4, m.3460G>A in MT-ND1, and m.14484T>C in MT-ND6) account for over 90% of cases. Males carrying the mutation are more likely to be affected, with partial spontaneous visual recovery possible in some individuals, particularly those harbouring the m.14484T>C variant.
Common clinical features
Acute or subacute painless loss of central visionCentrocaecal scotomaDyschromatopsia (impaired colour vision)Peripapillary telangiectatic microangiopathy (acute phase)Sequential or simultaneous bilateral involvementOptic atrophy on fundoscopyRarely, cardiac conduction defects or neurological features (LHON-plus)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Idebenone (Raxone)
Phase 3Curcumin
Phase 2Cyclosporine (Capimune)
Phase 2Elamipretide
Before you apply
Things trial teams commonly ask about for Leber Hereditary Optic Neuropathy. Not eligibility rules; those are set by each study.
- Timing from visual loss onset is critical: most neuroprotective trials require enrolment within 6–12 months of symptom onset in the affected eye; do not delay application.
- Primary mutation status (m.11778G>A, m.3460G>A, or m.14484T>C) is required for enrolment; mutation-specific trials exist, so confirm your exact variant.
- Visual acuity in both eyes at screening is a key stratification and eligibility variable; obtain formal low-vision assessment at a specialist centre.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).