Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT04419870
Status
Recruiting
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Conditions

  • Mitochondrial Disease

Eligibility Criteria

Sex
ALL
Age
2 Months - 115 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Oct 21, 2020
Status verified
Apr 2026
Primary completion
May 1, 2027
Completion
May 1, 2027

Study Design

Enrollment
400 participants (estimated)

Arms

  • Arm: Group 1a
    Patients with mitochondrial disease who are acutely ill.
  • Arm: Group 1b
    Patients with mitochondrial disease who are NOT ill with acute infection.
  • Arm: Group 2
    Family members of patients with mitochondrial disease in Group 1.

Primary Outcome Measure

We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling. [ Time Frame: Undefined for natural history study ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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