Acute Infection in Mitochondrial Disease

An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation)

Why are we doing this study?

Individuals with mitochondrial disease may be particularly at risk for decline associated with infection. The goal of this study is to compare biomarkers like genetic and immune differences in individuals with mitochondrial disease when they have an infection. Our goal is to understand how these markers may influence symptoms. We hope that we can use this information to help develop therapies to reduce the severity of infection in people with mitochondrial disease.

Who can join?

Anyone with mitochondrial disease may be eligible to join. We will use the clinical information, questionnaire responses and samples of people with mitochondrial disease for our main analyses. We may also enroll family or household members of the person with mitochondrial disease as controls or for other analyses related to genetics and infection.

What is involved

People in this study will:

Provide a blood sample
Fill out several health questionnaires either by phone, paper or online
Undergo a history and physical exam via telemedicine or video conferencing
Be contacted to share health and/or symptom updates with us after joining the study.

Privacy and confidentiality are very important to us. All information shared with us will be coded. We will not return individual genetic results. We may contact you after your illness to get updates on your health and you may be asked to provide additional blood samples or complete additional questionnaires if your health status changes.

We intend for our study to help better understand the interaction between infections and mitochondrial disease. If you are interested, please contact us at ministudy@nih.gov or Shannon Kruk, Research Nurse and study coordinator, at 301-451-9145.

Additional Resources

Flyer

Acute Infection in Mitochondrial Disease

Contact

Peter McGuire, M.S., M.B.B.Ch.

Investigator
Metabolic Medicine Branch

Eliza Gordon-Lipkin, M.D.

Staff Clinician
Metabolic Medicine Branch

Shannon Kruk, R.N., B.S.

Research Nurse Specialist
Metabolism, Infection and Immunity Section

Last updated: March 3, 2025