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Coenzyme Q10 deficiency, primary, 3

MONDO:0013838

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.

Also known as: PDSS2 coenzyme Q10 deficiency, coenzyme Q10 deficiency caused by mutation in PDSS2, coenzyme Q10 deficiency, primary, 3, coenzyme Q10 deficiency, primary, type 3, COQ10D3

19 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Hereditary disease (188) Peripheral nervous system disorder (119) Neuromuscular disease (110) Peripheral neuropathy (92) Inborn mitochondrial metabolism disorder (59) Inborn errors of metabolism (47) Mitochondrial disease (40)
Trials to join now! 9 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 2
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  • 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

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