Mitochondrial DNA depletion syndrome 4a

MONDO:0008758

A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

Also known as: AHD, AHS, Alper syndrome, Alper's disease, Alper's syndrome, Alpers Disease, Alpers Huttenlocher disease, Alpers Huttenlocher syndrome

19 clinical trials for this condition and its sub-types, 3 tagged with Mitochondrial DNA depletion syndrome 4a itself.

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Where it sits in the disease tree

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↑ Syndromic disease (7158) ↑ Inherited neurodegenerative disorder (808) ↑ Hereditary peripheral neuropathy (479) ↑ Mitochondrial DNA depletion syndrome, hepatocerebral form (4)

Including sub-types (19) Tagged with Mitochondrial DNA depletion syndrome 4a (3)

Not yet finished but already full! 1 Completed 1 Terminated 1

Last chance access: vatiquinone for mitochondrial disease patients

Disease control Expanded access (ended)

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

Sponsor: Medical University of South Carolina • Aim: Disease control

Last updated Jun 27, 2026 12:05 UTC

Mitochondrial DNA depletion syndrome 4a

Where it sits in the disease tree

Last chance access: vatiquinone for mitochondrial disease patients