RecruitingNCT04419870

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity

Sponsor

National Human Genome Research Institute (NHGRI)

Enrollment

400 participants

Start Date

Oct 21, 2020

Study Type

OBSERVATIONAL

Conditions

Mitochondrial disease

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. 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.

Eligibility

Min Age: 2 MonthsMax Age: 115 Years

Plain Language Summary

Simplified for easier understanding

This study examines how people with mitochondrial disease respond to acute infections, including COVID-19 and other viruses. Mitochondrial diseases are genetic conditions affecting the cell's energy-producing organelles (mitochondria), making patients more vulnerable to metabolic crises during illness. Infections can trigger serious complications in these patients, including energy failure and rapid neurological decline. Researchers will collect blood and other samples from patients with mitochondrial disease during acute infections, during stable periods, and from healthy family members for comparison. The goal is to understand the unique immune and metabolic patterns in mitochondrial disease during infection, which could lead to better supportive care strategies for this vulnerable population. You may be eligible if: - You are 2 months of age or older - You have a confirmed diagnosis of mitochondrial disease (by genetic testing, muscle biopsy, or other diagnostic methods) - You have a current suspected or confirmed acute infection OR are currently stable (not infected) - Family members of participants are also eligible as comparison controls You may NOT be eligible if: - You are less than 2 months of age - You do not have mitochondrial disease (for the patient groups) - For family controls: you are not a household or family member of a patient participant Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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