Primary Mitochondrial Disease Biomarker Investigation

Developing Clinically Relevant Endpoints for Primary Mitochondrial Disorders: Biological and Clinical Biomarkers of Disease

Protocol Description

Through this observational study, researchers will study blood and potentially other stored biological samples from patients with a primary mitochondrial disorder (PMD) with a goal of relating changes in these proteins to patient symptoms.

Eligibility Criteria

The study accepts male and female patients, up to age 65, who have a genetically confirmed PMD and are having blood draws through their routine clinical care.
Males and Females: Up to age 65


There are no special requirements. When blood is collected through regular sampling, additional blood will be collected for this study. If enrollees have a skin biopsy, spinal tap or other procedure where fluids or tissue are collected, researchers request a portion of these materials to be sent to the primary investigator for laboratory analysis, including enzyme and subcellular studies.
Visits: Not applicable
Duration: Not applicable

Status: Enrolling by Invitation

Additional Information

Medical Genetics Research

Primary Investigator

Amy Goldstein, MD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker