An observational study in Mitochondrial Disease, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in United States. Open to participants aged 2 Months to 115 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-10.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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.
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:
Endpoints:
Primary Endpoints:
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
Secondary Endpoints:
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:
189 studies on the registry are indexed under Mitochondrial Diseases; 60 are open to participants now.
This study's planned enrollment of 400 is above the median of 80 across 65 observational studies indexed under Mitochondrial Diseases.
Browse Mitochondrial Diseases studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
In order to be eligible to participate in this study, an individual must meet all of the following
criteria:
Group 1a
At the time of enrollment, participants must have suspected or confirmed acute infection as defined by
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
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
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
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
Groups 1a\&b
Group 2
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with mitochondrial disease who are acutely ill.
Patients with mitochondrial disease who are NOT ill with acute infection.
Family members of patients with mitochondrial disease in Group 1.
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.
Time frame: Undefined for natural history study
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)
Time frame: 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.
Time frame: Undefined for natural history study
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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