Actively Recruiting
Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-15
400
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying mitochondrial disease, a rare inherited disorder that can cause poor growth, developmental delays, muscle weakness, and other symptoms. This research focuses on understanding how infections affect people with mitochondrial disease and how genes influence their health. The study aims to identify immune responses and other biological markers related to infection and recovery in affected individuals. Participants include people with mitochondrial disease who may or may not be acutely ill and their household or family members. Those with acute infections or those without are grouped separately, along with family members who do not have the disease. The study involves collecting blood samples, reviewing medical records, completing health questionnaires, and may include video exams during illness. Biological samples such as blood and possibly cerebral spinal fluid will be analyzed for immune and genetic markers. Participants will be involved for about one year, with possible extensions if their illness continues. Researchers will perform genetic and immune profiling through blood tests and questionnaires to track health changes and infection responses over time. They will collect data on clinical presentations, healthcare access, and functional status. Personal data will be coded and shared with other researchers while protecting privacy.
CONDITIONS
Brief Title
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must be two months of age or older.
- Participants with mitochondrial disease must have diagnosis confirmed by a genetics or neurology specialist.
- Group 1a participants must have suspected or confirmed acute infection with new onset symptoms or positive lab testing.
- Group 1b participants must not have acute infection at enrollment.
- Group 2 participants must be household or family members of Group 1 and weigh more than 4 kilograms.
You will not qualify if you...
- Participants younger than two months of age.
- Participants without mitochondrial disease (for Groups 1a and 1b).
- Participants who are not household or family members of Group 1 (for Group 2).
- Participants declined for enrollment by the study team based on clinical judgment.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants are observed over time to collect clinical data, blood specimens, and patient-centered outcomes through questionnaires to understand disease progression and immune responses during acute illness and recovery.
Visits occur as needed based on illness status and recovery phases
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.
E
Eliza M Gordon-Lipkin, M.D.
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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