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Protocol Details

The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)



Mitochondrial Disorders;
Leigh Disease;
Subacute Necrotizing Encephalopathy;
Disorders of Oxidative Phosphorylation (OXPHOS);
Natural History

Recruitment Keyword(s)



Oxidative Phosphorylation Deficiencies;
Electron Transport Chain Disorders, Mitochondrial;
Mitochondrial Disorders;
Leigh Disease

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute

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.


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

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Patients of any gender and ethnicity age 2 years and older with a diagnosis of MD or a related disorder are eligible to enroll in this protocol. Patients will be diagnosed based on a determination of several parameters that may include DNA mutation or enzyme analysis known or pending. Participants need to be medically managed by a local provider. We will obtain written consent from the patient to review medical records from their home physician to confirm eligibility. In certain situations we may elect to enroll unaffected first degree family members of patients with MD for the delineation of a patient s phenotype.

Healthy volunteers of any gender and ethnicity 2 years and older may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MD.

Patient and healthy volunteer exclusion criteria include: less than 2 years of age. The Principal Investigator may decline to enroll a patient for other reasons based on clinical judgment. Other criteria that may lead to exclusion include, for example, residing in a hospital. Furthermore for MD patients, any patient who does not have a regular/local physician with expertise in mitochondrial disease and/or a family physician, pediatrician, or internist will also be excluded. For MD patients, a study team member will obtain pertinent medical history and may contact each potential patient s local metabolic/specialty physician to discuss the details of their last visit, and their current clinical status to determine whether the patient is an appropriate candidate for this protocol. Closer to a scheduled visit, the study team will confirm the details of the patient s medications.

Lastly, each family will be contacted by a member of the study staff prior to a pending inpatient admission to confirm that the patient is metabolically stable and ready to visit the NIH in a state of relative health, with an adequate supply of special formulas, medications and


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Kruk SK, Pacheco SE, Koenig MK, Bergerson JRE, Gordon-Lipkin E, McGuire PJ. Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2415-2418.e3. doi: 10.1016/j.jaip.2019.03.046. Epub 2019 Apr 5. PMID: 30954647; PMCID: PMC6733614.

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Principal Investigator

Referral Contact

For more information:

Peter J. McGuire, M.D.
National Human Genome Research Institute (NHGRI)
(240) 515-5915

Shannon Kruk, R.N.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 5-1485A
10 Center Drive
Bethesda, Maryland 20892
(301) 451-9145

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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