The NIH MINI Study: Metabolism, Infection, and Immunity in Mitochondrial Diseases
This study, called the NIH MINI Study, is looking at how infections and the immune system affect people with mitochondrial diseases. Mitochondrial diseases are conditions where your cells have trouble making energy. Researchers want to understand why infections can make symptoms worse, especially neurological (brain and nerve) symptoms, in people with these conditions. They also want to see how well the immune system works and how effective vaccines are in protecting against infections. There are no specific interventions (treatments) being tested. The study aims to understand the relationship between infection, immunity, and how the disease progresses. You may be able to join if you are 2 years old or older, have a confirmed mitochondrial disease, and are willing to follow study procedures. The current recruitment status is unclear.
- Study design
- This is an observational study, meaning researchers will observe participants without providing specific interventions. It plans to enroll up to 500 participants.
- What's involved
- You would have routine inpatient and outpatient admissions lasting 2-3 days, which may include blood drawing, X-rays, nutrition assessments, and body measurements. Immune challenges might involve vaccinations for seasonal flu and pneumonia.
- Compensation
- Not stated in the trial record.
- Follow-up
- Follow-up appointments will be scheduled at the end of the study period, with measurements taken at the initial visit and various timepoints thereafter.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
At a glance
Conditions
NCT01780168
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
- Peter J McGuire, 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
- To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolismInitial visit and various timepoints thereafter dependent on protocol
By developing an understanding of immune dysfunction, targets for rational therapies may be developed for this patient population.
- To document the development of adaptive immunity in cohorts of mitochondrial disease patients according to the standard of care for this vulnerable population.Initial visit and various timepoints thereafter dependent on protocol
By developing an understanding of immune dysfunction, targets for rational therapies may be developed for this patient population.