Oxidative Phosphorylation DeficienciesNCT01780168
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
An observational study of Oxidative Phosphorylation Deficiencies and Electron Transport Chain Disorders, Mitochondrial, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 4 weeks to 115 yearsHealthy volunteers can take part
- Conditions the study is for
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 31 Dec 2012to 31 Dec 2099
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 weeks to 115 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with inborn errors of metabolism including those with mitochondrial disease
Who may be able to join
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Male or female, >4 weeks of age.
- Diagnosis of mitochondrial disease with documented molecular evidence of disease.
- 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.
- Agreement to adhere to Lifestyle considerations throughout study duration.
Show all 13Show fewer
- Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
- Overall, most participants will be over the age of 2 years. Advances in genetic diagnostics coupled with earlier diagnosis of MtD has led to an increasing number of participants who could be eligible within the 1-24 month age range.
- Participants with MtD who are between 1-24 months of age may be enrolled on this study on a case by case basis at the discretion of the PI and clinical team. The participants clinical status and resource availability within NIH will be taken into account. The majority of the clinical team, has pediatric experience and/or are board certified in Pediatrics (PI) or Pediatric Neurology (Staff Clinician).
- Participants with a hospitalization immediately prior to their appointment date will be rescheduled. Rescheduled appointments will occur no earlier than 2 weeks after the hospitalization discharge date.
- The enrollment is requested to be 50/year with a ceiling of 500 participants: 300 MtD participants and 200 healthy volunteers. Enrollment is anticipated to be up to 50 MtD participants/year and up to 30 HV/year. Recruitment of healthy volunteers may be targeted to match age ranges and sex of MtD participants seen.
- We may also receive deidentified biospecimens (blood spots, blood samples, serum samples)
- from biorepositories such as the National Children s Study, the Mitochondrial Disease Biobank at Mayo, the biorepository at the Children s Hospital of Philadelphia, or the North American Mitochondrial Disease Consortium, to our current protocol. These samples may be used to examine the role of mitochondrial haplogroups, ancient mutations in mtDNA that help define ancestral origins, in mitochondrial disease, as well as nDNA mutations involved in mitochondrial disease. Under an MTA, we are requesting biospecimens for up to 500 participants, which will be stored indefinitely or until use. Our recruitment will remain the same since these are specimens only and not additional participants. For the Mitochondrial Disease Biobank, we mayrequest materials and patient clinical information for up to 500 individuals to help supplement our current cohort.
Who cannot join
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Lack of a local MtD provider (For participants with MtD only)
- Pregnancy or lactation
- Discretion and clinical judgement of the Principal Investigator
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism
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:
Read more
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
Read the detailed description
Study Description:
Infections are a leading cause of morbidity and mortality in children with mitochondrial (MtD) disease. This is a longitudinal natural history study of infection and immunity in children with mitochondrial disease.
Objectives:
This longitudinal natural history study aims to characterize biological factors that contribute to deleterious host-pathogen interactions in children with mitochondrial disease.
Primary Objective:
- To document the relationship between infection and disease status in participants with mitochondrial disease via a natural history study.
Secondary Objectives:
- To capture descriptive and functional immunologic data in cohorts of mitochondrial participants by the collection of biologic specimens.
- To document the vulnerability of organs affected by MtD which may manifest with dysfunction/failure during infection.
Endpoints:
Primary Endpoint: To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism.
Secondary Endpoint:
To document immunity in cohorts of mitochondrial disease patients.
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Keywords
- Mitochondrial Disorders, Leigh Disease, Subacute Necrotizing Encephalopathy, Disorders of Oxidative Phosphorylation (OXPHOS), Natural History
- Medical subject headings
- Mitochondrial Diseases, Leigh Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| healthy volunteers | Healthy volunteers | |
| Inborn errors of metabolism/mitochondrial disease | patients with inborn errors of metabolism including those with mitochondrial disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism
By developing an understanding of immune dysfunction, targets for rational therapies may be developed for this patient population.
Measured: Initial visit and various timepoints thereafter dependent on protocol
To document the development of adaptive immunity in cohorts of mitochondrial disease patients according to the standard of care for this vulnerable population.
By developing an understanding of immune dysfunction, targets for rational therapies may be developed for this patient population.
Measured: Initial visit and various timepoints thereafter dependent on protocol
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jan 2013 (estimated)
- Study start31 Dec 2012
- Primary completion31 Dec 2099 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Oxidative Phosphorylation DeficienciesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Peter J McGuire, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01780168
- Sponsor's protocol ID
- 130053
- Other IDs
- 13-HG-0053
- Status last verified
- 26 Oct 2026
- First submitted
- 29 Jan 2013
- Last updated
- 28 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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. No abstract available.
PubMed 30954647
Study at a glance
From the registry record, last updated by the sponsor on 28 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism
- ClinicalTrials.gov ID
- NCT01780168
- Acronym / sponsor ID
- 130053
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Keywords
- Mitochondrial Disorders, Leigh Disease, Subacute Necrotizing Encephalopathy, Disorders of Oxidative Phosphorylation (OXPHOS), Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 31 Dec 2012 (actual)
- Primary completion
- 31 Dec 2099 (estimated)
- First posted
- 30 Jan 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
Study Description:
Infections are a leading cause of morbidity and mortality in children with mitochondrial (MtD) disease. This is a longitudinal natural history study of infection and immunity in children with mitochondrial disease.
Objectives:
This longitudinal natural history study aims to characterize biological factors that contribute to deleterious host-pathogen interactions in children with mitochondrial disease.
Primary Objective:
- To document the relationship between infection and disease status in participants with mitochondrial disease via a natural history study.
Secondary Objectives:
- To capture descriptive and functional immunologic data in cohorts of mitochondrial participants by the collection of biologic specimens.
- To document the vulnerability of organs affected by MtD which may manifest with dysfunction/failure during infection.
Endpoints:
Primary Endpoint: To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism.
Secondary Endpoint:
To document immunity in cohorts of mitochondrial disease patients.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| healthy volunteers | – | –Healthy volunteers |
| Inborn errors of metabolism/mitochondrial disease | – | –patients with inborn errors of metabolism including those with mitochondrial disease |
Who may qualify
- Ages
- 4 weeks to 115 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with inborn errors of metabolism including those with mitochondrial disease
Key inclusion criteria (13 listed)
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Male or female, >4 weeks of age.
- Diagnosis of mitochondrial disease with documented molecular evidence of disease.
- 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.
Key exclusion criteria (4 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Lack of a local MtD provider (For participants with MtD only)
- Pregnancy or lactation
- Discretion and clinical judgement of the Principal Investigator
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism
Time frame: 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.
To document the development of adaptive immunity in cohorts of mitochondrial disease patients according to the standard of care for this vulnerable population.
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2026.
- Background: PubMed 30954647Kruk 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. No abstract available.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Peter J McGuire, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Oxidative Phosphorylation Deficiencies and Electron Transport Chain Disorders, Mitochondrial, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Shannon K Kruk, R.N. ((301) 451-9145, shannon.kruk@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To provide insight into the mechanisms involved in the interplay between the immune system and mitochondrial metabolism (time frame: Initial visit and various timepoints thereafter dependent on protocol). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01780168, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2026.