Actively Recruiting
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-28
400
Participants Needed
1
Research Sites
288 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must be 2 months of age or older.
- Participants must have a diagnosis of mitochondrial disease confirmed by a genetics or neurology expert, supported by genetic testing, muscle biopsy, biochemical testing, neuroimaging, or enzyme analysis.
- For participants with acute infection: must have new symptoms like fever, cough, shortness of breath, fatigue, sore throat, rhinorrhea, musculoskeletal pain, vomiting, diarrhea, anosmia, or neurologic decline within one month of enrollment, and testing for infection is clinically indicated; or have laboratory-confirmed infectious disease.
- Participants without acute infection but diagnosed with mitochondrial disease may also enroll.
- Household or family members of participants with mitochondrial disease must be 2 months or older and weigh more than 4 kilograms.
You will not qualify if you...
- Participants younger than 2 months of age.
- Participants without mitochondrial disease (for Group 1).
- Participants who are not household or family members of a participant with mitochondrial disease (for Group 2).
- Participants may be excluded for other reasons based on clinical judgment by the study team.
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
S
Shannon K Kruk, R.N.
CONTACT
E
Eliza M Gordon-Lipkin, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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