Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)

Completed · Phase 3 · Has a placebo group

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

In brief

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).

Key facts

Study ID

NCT05162768

Run by

Stealth BioTherapeutics Inc.

People needed

102

Starts

2022-04-29

Expected to finish

2024-12-04

Last updated by the study team

2025-10-24

Who can join

Age: 18 and older, up to 70. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• A subject must meet all of the following inclusion criteria at the Screening and Baseline Visit (unless otherwise specified) to be eligible for inclusion in the SPIMD-301 trial:
• Willing and able to provide a signed informed consent form (ICF) prior to participation in any trial-related procedures.
• Agrees and is able to adhere to the trial requirements for the length of the trial, including administration of assigned treatment.
• Is ≥18 years and ≤ 70 years of age at the time of screening.
• Diagnosed with nPMD with a predominant clinical manifestation of myopathy, which must include progressive external ophthalmoplegia (PEO) and exercise intolerance and/or skeletal muscle weakness, with genetic confirmation of either:
• Nuclear DNA mutation of the mitochondrial replisome (replisome-related mutations), which include the following genes:
• POLG 1/2
• TWINKLE (C10ORF2)
• TYMP
• DGUOK
• TK2
• RRM2B
• RNASEH1
• SSBP
• MGME1
• DNA2
• ANT1 (SLC25A4)
• SUCLG1
• SUCLA2
• MPV17 or
• Other pathogenic mutations specific to nuclear DNA.
• Women of childbearing potential must agree to use one of the following methods of birth control from the date they sign the ICF until 28 days after the last dose of IMP:
• Abstinence, when it is in line with the preferred and usual lifestyle of the subject. Subject agrees to use a highly effective method of contraception should they become sexually active.
• Relationships with male partners who have been surgically sterilized by vasectomy (the vasectomy procedure must have been conducted at least 60 days prior to the Screening Visit).
• Barrier method (e.g., condom or occlusive cap) with spermicidal foam/gel/film/cream AND either hormonal contraception (oral, implanted, or injectable) or an intrauterine device or system.

You may not qualify if…

• Is unable to perform the 6MWT, 3TUG, or 5XSST functional tests. The use of a gait assist device is allowed; however, use should remain consistent for the entire duration of the trial.
• Female subjects who are pregnant, planning to become pregnant, or breastfeeding/lactating.
• Walks < 150 meters or > 450 meters during the 6MWT (Screening Visit only).
• The estimated glomerular filtration rate (eGFR) is < 30 mL/min/1.73 m2, using the Modification of Diet in Renal Disease (MDRD) Study equation (Screening Visit only).
• Has undergone an in-patient hospitalization within 30 days prior to screening or has a planned hospitalization or a surgical procedure during the trial, unless, in the opinion of the Investigator, it is concluded that it will not impact the outcome measurements of the trial.
• Has clinically significant respiratory disease and/or cardiac disease that would interfere with trial assessments, in the opinion of the Investigator.
• Has had any prior interventional cardiac procedure (e.g., cardiac catheterization, angioplasty/percutaneous coronary intervention, balloon valvuloplasty, etc.) within 3 months prior to screening.
• Has history of or current severe neurologic impairment, severe epilepsy, severe ataxia, or severe neuropathy that may interfere with their ability to complete all trial requirements, in the opinion of the Investigator.
• Active malignancy or any other cancer from which the subject has been disease-free for < 2 years. Localized squamous or non-invasive basal cell skin carcinomas are allowed, if appropriately treated prior to screening.
• Has had a solid organ transplant.
• Has been previously diagnosed with human immunodeficiency virus (HIV), hepatitis B, or hepatitis C infection.
• Has a history of a systemic eosinophilic illness and/or an eosinophil count >1,000 cells x106/L at the Screening Visit.
• Is currently participating or has participated in an interventional clinical trial (i.e., investigational product or device, stem cell therapy, gene therapy) within 30 days prior to current trial; or is currently enrolled in a non-interventional clinical trial that, in the opinion of the Investigator, may be potentially confounding to the results of the current trial (e.g., exercise therapy trial).
• Has received elamipretide (MTP-131) within the past one year of the Screening Visit.
• Has a history of active substance abuse during the year prior, in the opinion of the Investigator.

Where it is running

• University of California, San Diego — San Diego, California, United States
• Rare Disease Research, LLC — Atlanta, Georgia, United States
• Massachusetts General Hospital — Boston, Massachusetts, United States
• Washington University School of Medicine — St Louis, Missouri, United States
• Columbia University Medical Center College of Physician and Surgeon — New York, New York, United States
• Akron Children's Hospital — Akron, Ohio, United States
• The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• University of Pittsburgh School of Medicine Children's Hospital of Pittsburgh of UPMC Department of Genetics — Pittsburgh, Pennsylvania, United States
• UT Health,Center for the Treatment of Pediatric Neurodegenerative Disease — Houston, Texas, United States
• Royal North Shore Hospital Neurology — Sydney, New South Wales, Australia
• Calvary Health Care Bethlehem — Parkdale, Victoria, Australia
• Department of Neurology, University Clinics Munich — Munich, Bavaria, Germany
• Universitaetsklinikum Carl Gustav Carus Dresden Neurologie — Dresden, Germany
• Univ of Tubingen, Hertie Institute for Clinical Brain Research — Tübingen, Germany
• Semmelweis Egyetem Genomikai Medicina es Ritka Betegsegek — Budapest, Hungary
• University of Pécs, Department of Neurology Klinikai Kozpont - neurologiai Klinika — Pécs, Hungary
• University of Brescia, NeMO Clinical Center for Neuromuscular Diseases — Gussago, Brescia, Italy
• Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore — Rome, Lazio, Italy
• IRCCS Institute of Neorological Sciences of Bologna Bellaria Hospital — Bologna, Italy
• Azienda Ospedaliero Universitaria Policlinico G. Martino — Messina, Italy
• Istituto Nazionale Neurologico Carlo Besta — Milan, Italy
• Azienda Ospedaliero Universitario Pisana, Dipartimento Ambientale di Neuroscienze — Pisa, Italy
• Radboud University Medical Center — Nijmegen, Netherlands
• University of Auckland - Auckland City Hospital, Neurology Department — Auckland, New Zealand
• Helse Bergen HF — Bergen, Norway

Full record on ClinicalTrials.gov

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