Primary Mitochondrial Myopathy

Condition Description

Mitochondrial diseases are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. Mitochondrial diseases that cause prominent muscular problems are called mitochondrial myopathies (myomeans muscle and pathos means disease), while mitochondrial diseases that causes both prominent muscular and neurological problems are called mitochondrial encephalomyopathies (encephalo refers to the brain).

A typical human cell relies on hundreds of mitochondria to meet its energy needs. The symptoms of mitochondrial disease vary, because a person can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body. In most cases, mitochondrial disease is a multisystem disorder affecting more than one type of cell, tissue, or organ.

Because muscle and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. Other frequent complications include impaired vision, cardiac arrhythmia (abnormal heartbeat), diabetes, and stunted growth. Usually, a person with a mitochondrial disease has two or more of these conditions, some of which occur together so regularly that they are grouped into syndromes.

Active Trials

  • TRIAL 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)

    DESCRIPTION: SPIMD-301 is a 48-week, randomized, double-blind, parallel-group, placebo-controlled trial to assess efficacy and safety of single daily subcutaneous (SC) administration of elamipretide as a treatment for subjects with primary mitochondrial myopathy associated with nuclear DNA mutations (nPMD).

    SPONSOR: Stealth BioTherapeutics Inc.

    INDICATION: Mitochondrial Myopathies, Mitochondrial Pathology, Mitochondrial DNA Mutation, Mitochondrial Diseases, Mitochondrial DNA Deletion, Mitochondrial DNA Depletion, Mitochondrial Metabolism Defect, Mitochondrial Complex I Deficiency

    STUDY PROTOCOL: SPIMD-301

    PHASE: 3

    STATUS: Active, not recruiting

    RECRUITING PATIENTS: No

Upcoming Trials

Past Trials

  • TRIAL TITLE: A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension (MMPOWER-3)

    DESCRIPTION: This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial myopathy. This will be followed by an open-label treatment extension.

    SPONSOR: Stealth BioTherapeutics Inc.

    INDICATION: Primary Mitochondrial Myopathy

    STUDY PROTOCOL: SPIMM-301

    PHASE: 3

    STATUS: Terminated