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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

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 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

Mitochondrial DNA maintenance syndrome

Where it sits in the disease tree

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