AFG3L2-related optic atrophy and/or spastic ataxia spectrum

MONDO:0700372

Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia.

Also known as: AFG3L2-related optic atrophy and/or spastic ataxia spectrum

13 clinical trials for this condition and its sub-types, 0 tagged with AFG3L2-related optic atrophy and/or spastic ataxia spectrum itself.

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Part of

↑ Mitochondrial DNA depletion syndrome (11)

Sub-types of AFG3L2-related optic atrophy and/or spastic ataxia spectrum

Optic atrophy 12 0 trials
Spastic ataxia 5 0 trials

Including sub-types (13) Tagged with AFG3L2-related optic atrophy and/or spastic ataxia spectrum (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

AFG3L2-related optic atrophy and/or spastic ataxia spectrum

Where it sits in the disease tree

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