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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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ 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 DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC

Auditory neuropathy-optic atrophy syndrome

Where it sits in the disease tree

New DNA test could end years of uncertainty for mitochondrial disease patients