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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, 1 tagged with Leber plus disease itself.

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Where it sits in the disease tree

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Part of

↑ Mitochondrial oxidative phosphorylation disorder (58)

Sub-types of Leber plus disease

Optic atrophy with demyelinating disease of CNS 1 trial
Leber optic atrophy and dystonia 0 trials

Including sub-types (15) Tagged with Leber plus disease (1)

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 Stopped early

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 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

Leber plus disease

Where it sits in the disease tree

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