Leber plus disease

MONDO:0020478

Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.

Also known as: LHON plus disease

15 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Sub-types

Optic atrophy with demyelinating disease of CNS (1) Leber optic atrophy and dystonia (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40) Human disease (14) Developmental defect during embryogenesis (8) Mitochondrial oxidative phosphorylation disorder (3) Disease of genetic or genomic mechanism (2)

Trials to join now! 5 Not yet recruiting 2 Not yet finished but already full! 4 Completed 3 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Terminated

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

Leber plus disease

Sub-types

Broader categories

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders