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Mitochondrial DNA depletion syndrome, hepatocerebral form

MONDO:0100512

Also known as: deoxyguanosine kinase deficiency, mtDNA depletion syndrome, hepatocerebral form

14 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial DNA depletion syndrome, hepatocerebral form itself.

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↑ Mitochondrial DNA depletion syndrome (11)

Sub-types of Mitochondrial DNA depletion syndrome, hepatocerebral form

Mitochondrial DNA depletion syndrome 4a 3 trials
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 1 trial
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 trials
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 0 trials

Including sub-types (14) Tagged with Mitochondrial DNA depletion syndrome, hepatocerebral form (0)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 5 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