Mitochondrial DNA depletion syndrome 11
MONDO:0014039Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Also known as: MGME1 mitochondrial DNA depletion syndrome, PEO-myopathy-emaciation syndrome, mitochondrial DNA depletion syndrome 11, mitochondrial DNA depletion syndrome caused by mutation in MGME1, mitochondrial DNA depletion syndrome type 11, mitochondrial DNA maintenance syndrome due to MGME1 deficiency, mtDNA maintenance syndrome due to MGME1 deficiency, MTDPS11
40 clinical trials for this condition and its sub-types.
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis 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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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC