Primary Mitochondrial Myopathy

Primary mitochondrial disease is a group of disorders caused by mutations in mitochondrial or nuclear DNA, affecting the mitochondria's ability to produce energy. The severity varies; some people live normal lives with early intervention, while others may have significant disabilities or a shortened life expectancy.

  • Cause: Mutations in mitochondrial DNA (mtDNA) or nuclear DNA that impair mitochondrial function, inherited maternally or through both parents.

  • Features: Can affect multiple systems, causing muscle weakness, neurological issues (seizures, developmental delays), vision and hearing loss, heart problems, and endocrine disorders (e.g., diabetes).

  • Diagnosis: Based on symptoms, genetic testing, and muscle biopsy.

  • Treatment: No cure, but management includes vitamin supplements, coenzyme Q10, carnitine, and medications for specific symptoms.

Active Trials

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Past Trials

  • TITLE: A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD)

    SPONSOR: Stealth BioTherapeutics Inc.

    INDICATION: Mitochondrial Myopathies

    PROTOCOL: SPIMD-301

    PHASE: 3

    DESCRIPTION: This 48-week randomized, double-blind, parallel-group, placebo-controlled trial will enroll approximately 130 subjects, consisting of 90 subjects who have nPMD associated with pathogenic mutations of the mitochondrial replisome("replisome-related mutations") for primary analysis and an additional subset of up to 40 subjects who have nPMD associated with other non-replisome-related pathogenic mutations specific to the nuclear DNA. Efficacy and safety of single daily SC doses of elamipretide administered as a treatment for subjects who have primary mitochondrial myopathy associated with nPMD will be determined. Subjects will be randomized 1:1 to 60mg Elamipretide or matching placebo groups.

    STATUS: Completed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia