Auditory neuropathy-optic atrophy syndrome

MONDO:0060582

A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.

Also known as: ANOA, auditory neuropathy and optic atrophy, multiple mitochondrial dysfunctions syndrome 9A

13 clinical trials for this condition and its sub-types, 0 tagged with Auditory neuropathy-optic atrophy syndrome itself.

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↑ Autosomal recessive disease (995) ↑ FDXR-related optic atrophy mitochondrial dysfunction syndrome (0)

Including sub-types (13) Tagged with Auditory neuropathy-optic atrophy syndrome (0)

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

Auditory neuropathy-optic atrophy syndrome

Where it sits in the disease tree

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