Understanding Acute Infection in Mitochondrial Disease
This study aims to understand how infections affect people with mitochondrial disease, a condition that can cause poor growth and muscle weakness. Researchers will study the immune responses and genetic makeup of people with mitochondrial disease when they get sick. They will compare this information to their healthy family members to learn how genes influence the disease and identify ways to improve care. The goal is to find specific immune patterns that could help doctors better treat infections in people with mitochondrial disease. You may be eligible if you are at least two months old and have a doctor-diagnosed mitochondrial disease.
- Study design
- This is an observational study, meaning no interventions are given. It plans to enroll 400 participants, including individuals with mitochondrial disease and their household/family members.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- Not specified.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
At a glance
Conditions
NCT04419870
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
National Institutes of Health Clinical Center
Bethesda, Marylandstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Eliza M Gordon-Lipkin, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.Undefined for natural history study
To identify immune signatures that associate with host responses to disease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severe symptoms and sequelae of infection in mitochondrial disease.