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Combined oxidative phosphorylation deficiency 34

MONDO:0054741

Also known as: combined oxidative phosphorylation deficiency 34, syndromic sensorineural deafness due to COXPD, syndromic sensorineural deafness due to combined oxidative phosphorylation defect, syndromic sensorineural hearing loss due to COXPD, COXPD34

13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation deficiency 34 itself.

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↑ Combined oxidative phosphorylation deficiency (0)

Including sub-types (13) Tagged with Combined oxidative phosphorylation deficiency 34 (0)

Trials to join now! 5 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…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC