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Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

NCT04419870 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 400

Last updated 2026-05-15

No results posted yet for this study

Summary

Background:

Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household/family members.

Objective:

To learn more about how genes affect people with mitochondrial disease.

Eligibility:

People age 2 months and older with mitochondrial disease and their household/family members. .\<TAB\>

Design:

Participants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample.

If the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires.

Participants genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers.

Participation lasts about 1 year. This may be extended if the participant is very ill.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Eliza M Gordon-Lipkin, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
2 Months
Max Age
115 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-10-21
Primary Completion
2027-05-01
Completion
2027-05-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04419870 on ClinicalTrials.gov