NCT01780168

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

Recruiting now Last updated 16 April 2026

What this trial tests

trial in Oxidative Phosphorylation Deficiencies in 500 participants. Currently enrolling.

Timeline

31 December 2012

Primary endpoint
31 December 2026

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	500
Start date	31 December 2012
Primary completion	31 December 2026
Sites	1 location across United States

Conditions studied

• Oxidative Phosphorylation Deficiencies — all drugs for Oxidative Phosphorylation Deficiencies →
• Electron Transport Chain Disorders, Mitochondrial — all drugs for Electron Transport Chain Disorders, Mitochondrial →
• Mitochondrial Disorders — all drugs for Mitochondrial Disorders →
• Leigh Disease — all drugs for Leigh Disease →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 2 to 115, any sex, with Oxidative Phosphorylation Deficiencies or Electron Transport Chain Disorders, Mitochondrial. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell s ability to produce energy. Infection in individuals with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.

Goals:

The main goal of our study is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. Mitochondrial diseases can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we perform a comprehensive evaluation of participants including a detailed immunologic assessment.

We are not testing any new medicine or procedure to treat or cure IEM or mitochondrial diseases. However, by understanding the relationship between infection and mitochondrial disease, we hope to develop treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to take over the long-term care of participants. To enroll in our study, you (your child) must already have a confirmed diagnosis of a mitochondrial disease. We are not able to provide a "first time" diagnosis or regular metabolic care.

What is involved?

Once you contact our team members, you will be asked to provide medical records to determine eligibility. Our team will review the records and notify you if you (your child is) eligible to join the study.

-Onsite participation: You (your child) will be invited to visit the National Institutes of Health in Bethesda, Maryland. This first visit will typically last 3-5 days. Depending on the level of participation, additional visits may be requested. Our team members will work with you and your child to coordinate the supports needed during your stay at NIH. Study participants may be seen in the clinic, day hospital or inpatient setting.

When you (your child) arrive at the NIH we will have an informed consent discussion to confirm willingness to participate, answer questions and review the risks and benefits of the study. You (your child) will meet with a physician who will ask about medical and family history and do a physical exam (like in any doctor's office). We will ask all study participants to allow us to collect urine, draw blood, swab your (your child s) nose, and perform a detailed assessment. We may suggest additional evaluations or specialty consults for some participants based on clinical manifestations, age and level of independence. We will explain these studies to you (your child). They may include items such as- imaging studies, DEXA or MRI scan, energy expenditure or metabolic testing, developmental neuropsychological logical testing, physiatry, ophthalmology, or other consults. In some cases, we may request a skin biopsy (if one has not been done). You will receive the results of your (your child's) clinical testing and notes from any clinical consultations.

-Remote participation: If you (your child) are unable to travel, you (your child) may be enrolled remotely for records review, questionnaires, and telethealth exams. Blood or other samples collection may be requested in coordination with local providers or lab testing companies

Publications & conference data

6 peer-reviewed publications reference this trial (live from Europe PMC):

1. Fatty acid metabolism in CD8<sup>+</sup> T cell memory: Challenging current concepts.
   Raud B, McGuire PJ, Jones RG, Sparwasser T, et al · · 2018 · cited 127× · PMID 29664569 · DOI 10.1111/imr.12655
2. Chronic kidney disease in propionic acidemia.
   Shchelochkov OA, Manoli I, Sloan JL, Ferry S, et al · · 2019 · cited 29× · PMID 31249402 · DOI 10.1038/s41436-019-0593-z
3. Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases.
   Kruk SK, Pacheco SE, Koenig MK, Bergerson JRE, et al · · 2019 · cited 28× · PMID 30954647 · DOI 10.1016/j.jaip.2019.03.046
4. Inflammatory and interferon gene expression signatures in patients with mitochondrial disease.
   Warren EB, Gordon-Lipkin EM, Cheung F, Chen J, et al · · 2023 · cited 25× · PMID 37208779 · DOI 10.1186/s12967-023-04180-w
5. Primary oxidative phosphorylation defects lead to perturbations in the human B cell repertoire.
   Gordon-Lipkin EM, Banerjee P, Franco JLM, Tarasenko T, et al · · 2023 · cited 10× · PMID 37483601 · DOI 10.3389/fimmu.2023.1142634
6. Epitope-level profiling in children with mitochondrial disease reveals limitations in the antibacterial antibody repertoire.
   Gordon-Lipkin EM, Banerjee P, Thompson E, Kruk S, et al · · 2023 · cited 3× · PMID 37104980 · DOI 10.1016/j.ymgme.2023.107581