Mitochondrial DiseaseNCT04419870
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
An observational study of Mitochondrial Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Read more about this study
- Who is it for?
- Ages 2 months to 115 yearsHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Disease
- How many people
- 400 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Oct 2020to 1 May 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 2 months to 115 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Three study populations will be recruited. (Group 1a) Participants with mitochondrial disease in any location who are two months of age or older and become acutely ill; (Group 1b) Participants with mitochondrial disease in any location who are two months of age or older and are not acutely ill (Group 2) Household and family members of group 1 to serve as controls. We anticipate approximately 50 participants in group 1 and up to 150 participants in Group 2.
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:
- Group 1a
- Participants must be two months of age or older.
- Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and/or neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.
- At the time of enrollment, participants must have suspected or confirmed acute infection as defined by
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- New onset of any of the following symptoms within one month of enrollment without an alternative diagnosis: fever, cough, shortness of breath, fatigue, sore throat, rhinorrhea, musculoskeletal pain, vomiting, diarrhea, anosmia, neurologic decline; AND report that testing for infection (e.g. respiratory viral panel, SARS COV-2 testing) is clinically indicated based on evaluation by a healthcare provider.
- OR
- Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.
- Note: At the time of initial approval of this protocol, testing for COVID-19/SARSCov-2 was not consistently available. In order to avoid bias by limiting recruitment to only those individuals with access to these healthcare resources, inclusion criteria for participants with acute illness were intentionally kept broad. Participants in Group 1 who were initially suspected to have COVID-19 but later found to have an alternative infectious illness were used for comparison studies. In 2023, after the end of the COVID-19 emergency, inclusion criteria for this study were broadened to focus on all acute infections in mitochondrial disease in order to characterize relationships between specific pathogens, immunophenotypes and clinical phenotypes in mitochondrial disease. Please also note that there is no minimum weight requirement for Group 1. However, there is a minimum weight requirement for phlebotomy procedures. Group 1 participants who do not meet minimum weight requirements may enroll for records and questionnaires only.
- Group 1b
- Participants must be two months of age or older.
- Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and/or neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.
- At the time of enrollment, participants may not have evidence of any acute infection.
- Note: Some participants may initially enroll in Group 1b and later experience acute infection, in which case they may be moved from Group 1b to Group 1a.
- Group 2
- Participants must be two months of age or older.
- Participants must weigh greater than 4 kilograms.
- Participants must be household or family member of a participant in Group 1 above.
Who cannot join
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Groups 1a\&b
- Participants who are less than two months of age.
- Participants who do not have mitochondrial disease.
- Study team may decline to enroll a participant for other reasons based on clinical judgement.
- Group 2
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- Participants who are less than two months of age.
- Participants who are not household or family members of Group 1.
- Study team may decline to enroll a participant for other reasons based on clinical judgement.
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. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity
Background:
Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household/family members.
Read more
Objective:
To learn more about how genes affect people with mitochondrial disease.
Eligibility:
People age 2 months and older with mitochondrial disease and their household/family members. .<TAB>
Design:
Participants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample.
If the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires.
Participants' genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers.
Participation lasts about 1 year. This may be extended if the participant is very ill.
Read the detailed description
Study Description:
A prospective longitudinal natural history study of acute illness in participants with Mitochondrial Disease and household/family members.
Objectives:
Primary Objectives: To identify immune signatures that associate with host responses to disease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severe symptoms and sequelae of infection in mitochondrial disease.
Secondary Objectives:
- To correlate immune signatures with quantifiable measures of clinical presentation to biomarkers of vulnerability and recovery and understand how these measures evolve over time.
- To perform exploratory analyses of omic variants, epigenetic signatures, serologic immune markers, antibody profiles and other possible techniques to discover other mechanisms of disease and their relationship with patient-centered outcomes.
Endpoints:
Primary Endpoints:
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
Secondary Endpoints:
- We will collect patient medical records for data abstraction to stratify severity of illness based on clinical factors (e.g. intensive care status, ventilatory support, clinical laboratory data, radiology records),
- We will collect patient centered outcomes data via questionnaires to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community. Exploratory Endpoints:
- We will collect whole blood specimens for sera and DNA that will support these activities, which will be developed dynamically during the protocol. This will include next generation sequencing to identify biomarkers associated with parameters of infection and recovery.
- We will collect other biological specimens (e.g. cerebral spinal fluid) where possible for the exploratory analyses outlined above.
- Conditions
- Mitochondrial Disease
- Keywords
- Genetics, Phenotype, Virus, Natural History
- Medical subject headings
- Mitochondrial Diseases, Virus Diseases
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 |
|---|---|---|
| Group 1a | Patients with mitochondrial disease who are acutely ill. | |
| Group 1b | Patients with mitochondrial disease who are NOT ill with acute infection. | |
| Group 2 | Family members of patients with mitochondrial disease in Group 1. |
What is being measured
The primary outcome is the main question the study is designed to answer.
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
To identify immune signatures that associate with host responses to disease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severe symptoms and sequelae of infection in mitochondrial disease.
Measured: Undefined for natural history study
Secondary outcomes (2)
Patient Medical Records for Data Abstraction
to stratify severity of illness based on clinical factors (e.g. intensive care status, ventilatory support, clinical laboratory data, radiology records)
Measured: Undefined for natural history study
Patient centered outcomes data via questionnaires
to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community.
Measured: Undefined for natural history study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2020
- Study start21 Oct 2020
- Primary completion1 May 2099 (estimated)
- Study completion1 May 2099 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseaseStudies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Eliza M Gordon-Lipkin, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04419870
- Sponsor's protocol ID
- 200120
- Other IDs
- 20-HG-0120
- Status last verified
- 8 Sep 2026
- First submitted
- 5 Jun 2020
- Last updated
- 10 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity
- ClinicalTrials.gov ID
- NCT04419870
- Acronym / sponsor ID
- 200120
- Conditions
- Mitochondrial Disease
- Keywords
- Genetics, Phenotype, Virus, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 21 Oct 2020 (actual)
- Primary completion
- 1 May 2099 (estimated)
- Study completion
- 1 May 2099 (estimated)
- First posted
- 9 Jun 2020 (actual)
- 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.
Background:
Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household/family members.
Objective:
To learn more about how genes affect people with mitochondrial disease.
Eligibility:
People age 2 months and older with mitochondrial disease and their household/family members. .<TAB>
Design:
Participants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample.
If the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires.
Participants' genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers.
Participation lasts about 1 year. This may be extended if the participant is very ill.
Detailed description
Study Description:
A prospective longitudinal natural history study of acute illness in participants with Mitochondrial Disease and household/family members.
Objectives:
Primary Objectives: To identify immune signatures that associate with host responses to disease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severe symptoms and sequelae of infection in mitochondrial disease.
Secondary Objectives:
- To correlate immune signatures with quantifiable measures of clinical presentation to biomarkers of vulnerability and recovery and understand how these measures evolve over time.
- To perform exploratory analyses of omic variants, epigenetic signatures, serologic immune markers, antibody profiles and other possible techniques to discover other mechanisms of disease and their relationship with patient-centered outcomes.
Endpoints:
Primary Endpoints:
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
Secondary Endpoints:
- We will collect patient medical records for data abstraction to stratify severity of illness based on clinical factors (e.g. intensive care status, ventilatory support, clinical laboratory data, radiology records),
- We will collect patient centered outcomes data via questionnaires to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community. Exploratory Endpoints:
- We will collect whole blood specimens for sera and DNA that will support these activities, which will be developed dynamically during the protocol. This will include next generation sequencing to identify biomarkers associated with parameters of infection and recovery.
- We will collect other biological specimens (e.g. cerebral spinal fluid) where possible for the exploratory analyses outlined above.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Group 1a | – | –Patients with mitochondrial disease who are acutely ill. |
| Group 1b | – | –Patients with mitochondrial disease who are NOT ill with acute infection. |
| Group 2 | – | –Family members of patients with mitochondrial disease in Group 1. |
Who may qualify
- Ages
- 2 months to 115 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Three study populations will be recruited. (Group 1a) Participants with mitochondrial disease in any location who are two months of age or older and become acutely ill; (Group 1b) Participants with mitochondrial disease in any location who are two months of age or older and are not acutely ill (Group 2) Household and family members of group 1 to serve as controls. We anticipate approximately 50 participants in group 1 and up to 150 participants in Group 2.
Key inclusion criteria (19 listed)
- In order to be eligible to participate in this study, an individual must meet all of the following
- Group 1a
- Participants must be two months of age or older.
- Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and/or neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.
- At the time of enrollment, participants must have suspected or confirmed acute infection as defined by
Key exclusion criteria (9 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Groups 1a\&b
- Participants who are less than two months of age.
- Participants who do not have mitochondrial disease.
- Study team may decline to enroll a participant for other reasons based on clinical judgement.
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
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
Time frame: Undefined for natural history study
To identify immune signatures that associate with host responses to disease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severe symptoms and sequelae of infection in mitochondrial disease.
2 secondary outcomes
Patient Medical Records for Data Abstraction
Time frame: Undefined for natural history study
Patient centered outcomes data via questionnaires
Time frame: Undefined for natural history study
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 10 Sep 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Eliza M Gordon-Lipkin, 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 Mitochondrial Disease, 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 19 inclusion and 9 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 10 Sep 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?
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling. (time frame: Undefined for natural history study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 10 Sep 2026.