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Mitochondrial complex I deficiency, nuclear type 12

MONDO:0026720

Also known as: mitochondrial complex i deficiency, nuclear type 12, X-linked recessive, MC1DN12, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12

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

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40) Human disease (14) Developmental defect during embryogenesis (8) Mitochondrial respiratory chain complex deficiency (4) Mitochondrial oxidative phosphorylation disorder (3)
Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1
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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…

    Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

    Last updated Jun 27, 2026 12:04 UTC

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