Understanding infection and immunity in mitochondrial diseases
The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism
This study looks at how infections and the immune system affect people with mitochondrial diseases to better understand their health challenges and how well vaccines work for them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 2 Years to 115 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01780168 on ClinicalTrials.gov |
What this trial studies
The NIH MINI Study is a longitudinal observational study that investigates the relationship between infection, immunity, and clinical decline in individuals with mitochondrial diseases. It aims to characterize immune deficiencies and the effectiveness of vaccinations in patients with inborn errors of metabolism. Participants undergo comprehensive evaluations, including immunologic assessments, blood draws, and nutritional evaluations, over a 2-3 day inpatient or outpatient stay. The study does not involve testing new treatments but focuses on understanding existing health challenges faced by this population.
Who should consider this trial
Good fit: Ideal candidates include individuals over 12 months of age with a documented diagnosis of mitochondrial disease, as well as healthy volunteers over 2 years of age.
Not a fit: Patients under 12 months of age, pregnant or lactating individuals, and those without a local mitochondrial disease provider may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the management and vaccination strategies for patients with mitochondrial diseases, potentially enhancing their immune responses and overall health.
How similar studies have performed: While this study focuses on a specific population, similar studies have shown the importance of understanding immune responses in patients with metabolic disorders, indicating potential for meaningful insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: In order to be eligible to paraticipant in this study, an individual must meet all of the following criteria: 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Male or female, \>12 months of age. 3. Diagnosis of mitochondrial disease with documented molecular evidence of disease. 4. Healthy volunteers of any gender and ethnicity \>2 years of age may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MtD. 5. Agreement to adhere to Lifestyle considerations throughout study duration. 6. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: 1. Lack of a local MtD provider (For participants with MtD only) 2. \<12 months of age 3. Pregnancy or lactation 4. Discretion and clinical judgement of the Principal Investigator
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Peter J McGuire, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Shannon K Kruk, R.N.
- Email: shannon.kruk@nih.gov
- Phone: (301) 451-9145
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.