Observing Infection and Immune Responses in People with Mitochondrial Disease and Their Families

What this Trial Is About

Mitochondrial disease is a rare inherited disorder that can cause poor growth, developmental delays, muscle weakness, and other symptoms. It may be present at birth or develop later, and infections are a major cause of illness and death in affected individuals. Researchers aim to understand how genes influence the health and infection response of people with mitochondrial disease by studying their DNA and comparing it with family members. Participants include people aged 2 months and older with mitochondrial disease, both during acute illness and when not acutely ill, along with their household or family members. The study involves completing health history questionnaires, blood sample collection, and medical record review. If a participant becomes ill, they may have a video physical exam and provide additional blood samples and health updates. Genetic data will be coded and shared with other researchers. Participation lasts about one year and may be extended if the participant remains very ill. During this time, researchers will analyze blood samples to understand immune responses and perform detailed data collection including questionnaires, medical record abstraction, and exploratory biological analyses. This will help identify immune markers and clinical features related to infection and recovery in mitochondrial disease.

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity