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MELAS syndrome caused by mutation in MTTL1

MONDO:0800032

Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.

Also known as: MTTL1 MELAS syndrome

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

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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) Syndromic disease (25) Inborn mitochondrial myopathy (16)

Trials to join now! 10 Not yet recruiting 1 Not yet finished but already full! 5 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