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mitochondrial encephalomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial encephalomyopathy

MONDO:0004675

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Overview

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)

Clinical Trials3 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for mitochondrial encephalomyopathy has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3, 2 PHASE2. Research is sponsored by a mix of industry and academic institutions.

106 publications have been identified in PubMed for mitochondrial encephalomyopathy. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	46

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial encephalomyopathy

Overview

Diagnosis

Research Landscape

Medical References

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Questions for Your Care Team

Questions for Your Care Team

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