Mitochondrial DNA maintenance syndrome

MONDO:0018121

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.

Also known as: inborn error of mitochondrial genome maintenance, inborn mitochondrial genome maintenance disorder, mtDNA maintenance syndrome, rare inborn error of mitochondrial genome maintenance

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial DNA maintenance syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Mitochondrial oxidative phosphorylation disorder (58)

Including sub-types (13) Tagged with Mitochondrial DNA maintenance 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

Mitochondrial DNA maintenance syndrome

Where it sits in the disease tree

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