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FDXR-related optic atrophy mitochondrial dysfunction syndrome

MONDO:1060116

Any mitochondrial disorder in which the cause of the disease is a mutation in the FDXR gene.

Also known as: FDXR-related optic atrophy mitochondrial dysfunction syndrome

13 clinical trials for this condition and its sub-types, 0 tagged with FDXR-related optic atrophy mitochondrial dysfunction syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187) ↑ Mitochondrial disease (132)

Sub-types of FDXR-related optic atrophy mitochondrial dysfunction syndrome

Auditory neuropathy-optic atrophy syndrome 0 trials
Multiple mitochondrial dysfunctions syndrome 9b 0 trials
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials

Including sub-types (13) Tagged with FDXR-related optic atrophy mitochondrial dysfunction 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