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.
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
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.
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.
Participants who are less than two months of age.
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.
Case-control
Prospective
Not listed
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.
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)
Patient centered outcomes data via questionnaires
to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community.
Click on the lead sponsor to view all of their trials.
