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Leigh syndrome with cardiomyopathy

MONDO:0019083

Also known as: Leigh disease with myopathy, cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency, cardiomyopathy with myopathy due to COX deficiency

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

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Peripheral nervous system disorder (114) Neuromuscular disease (106) Peripheral neuropathy (91) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40)

Trials to join now! 10 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 2

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