Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Recruiting now
Conditions studied: Mitochondrial Disease
In brief
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.
Key facts
- Study ID
- NCT04419870
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 400
- Starts
- 2020-10-21
- Expected to finish
- 2027-05-01
- Last updated by the study team
- 2026-07-22
Who can join
Age: 0 and older, up to 115. Sex: any. Healthy volunteers: accepted.
You may not qualify if…
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Groups 1 a\&b
- Participants who are less than two months of age.
- Participants who do not have mitochondrial disease.
- Study team may decline to enroll a participant for other reasons based on clinical judgement.
- Group 2
- Participants who are less than two months of age.
- Participants who are not household or family members of Group 1.
- Study team may decline to enroll a participant for other reasons based on clinical judgement.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
Full record on ClinicalTrials.gov
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