Primary Mitochondrial Disease Observational Study (SPIMM-300)

Prospective Observational Study of Patients with Primary Mitochondrial Disease

Protocol Description

Through this multi-center study, which is also known as SPIMM-300, researchers will study the relationship between patients’ genetic test results and the signs and symptoms of primary mitochondrial disease (PMD). As genes are the instructions for how the body functions and how proteins are made, abnormalities or variants in the genes can lead to proteins that do not work correctly and can cause disease. Learning more about how these variants relate to PMD symptoms may help in developing future treatments. Regional differences in the genetic test methods and in the standard clinical care of PMD patients will also be examined. Additionally, this study may help researchers identify potential patients for future clinical trials of investigational drugs to treat PMD.

Eligibility Criteria

Subject to certain exclusion criteria, the study accepts male and female patients, ages 16 to 65, with a clinical presentation of PMD and signs or symptoms suggestive of myopathy.
Males and Females: Ages 16 to 65


The only visit required for this study is the initial enrollment visit, at which time the participant will be given a physical examination and answer questions related to this study. Medical history information will also be collected and entered into the study database. Participants will continue with their normal clinical care for PMD and information about their continued health, treatments for PMD, and responses will be added to the study database over time.
Visits: 1
Duration: Ongoing

Status: Enrolling by Invitation

Source(s) of Support

Stealth BioTherapeutics

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Sandra Braden, RN