Cure My Disease

Don't miss your cure!

Log in / Sign up

COX deficiency, benign infantile mitochondrial myopathy

MONDO:0957524

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

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

Follow this condition — get notified about new trials

Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Muscle tissue disorder (56) Inborn errors of metabolism (45) Mitochondrial disease (40) Inborn mitochondrial myopathy (16) Human disease (14)

Trials to join now! 10 Not yet recruiting 1 Not yet finished but already full! 4 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…

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

Last updated Jun 27, 2026 12:04 UTC