Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity During the COVID19 Pandemic
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|ClinicalTrials.gov Identifier: NCT04419870|
Recruitment Status : Recruiting
First Posted : June 9, 2020
Last Update Posted : August 11, 2020
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 how infection and the declining health of people who have this disease may be related to the COVID-19 pandemic. To do this, researchers will study the DNA of people who become ill with suspected or confirmed coronavirus. Their DNA will be compared to the DNA of their family members.
To learn more about how genes may play a role in how COVID-19 affects people with mitochondrial disease.
People age 2 months and older with mitochondrial disease and a suspected or confirmed diagnosis of COVID-19.<TAB>
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.
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic|
|Estimated Study Start Date :||August 14, 2020|
|Estimated Primary Completion Date :||May 1, 2025|
|Estimated Study Completion Date :||May 1, 2025|
Patients with mitochondrial disease who are ill with suspected or confirmed COVID19
Family members of patients with mitochondrial disease in Group 1
- 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 todisease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severesymptoms and sequelae of infection in mitochondrial disease.
- Patient Medical Records for Data Abstraction [ Time Frame: Undefined for natural history study ]to stratify severity of illness based on clinical factors (e.g. intensive care status, ventilatory support, clinical laboratory data, radiologyrecords)
- Patient centered outcomes data via questionnaires [ Time Frame: Undefined for natural history study ]to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04419870
|Contact: Shannon Kruk, R.N.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Eliza M Gordon-Lipkin, M.D.||National Human Genome Research Institute (NHGRI)|