NCT04419870

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 400 (estimated)
• Sponsor: National Human Genome Research Institute (NHGRI) · NIH
• Sex: All
• Age: 2 Months – 115 Years
• Healthy volunteers: Accepted

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.

Detailed description

Study Description: A prospective longitudinal natural history study of acute illness in participants with Mitochondrial Disease and household/family members. Objectives: Primary Objectives: 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. Secondary Objectives: 1. To correlate immune signatures with quantifiable measures of clinical presentation to biomarkers of vulnerability and recovery and understand how these measures evolve over time. 2. To perform exploratory analyses of omic variants, epigenetic signatures, serologic immune markers, antibody profiles and other possible techniques to discover other mechanisms of disease and their relationship with patient-centered outcomes. Endpoints: Primary Endpoints: We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling. Secondary Endpoints: 1. We will collect 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), 2. We will collect patient centered outcomes data via questionnaires to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community. Exploratory Endpoints: 3. We will collect whole blood specimens for sera and DNA that will support these activities, which will be developed dynamically during the protocol. This will include next generation sequencing to identify biomarkers associated with parameters of infection and recovery. 4. We will collect other biological specimens (e.g. cerebral spinal fluid) where possible for the exploratory analyses outlined above.

Conditions

• Mitochondrial Disease

Timeline

• Start date: 2020-10-21
• Primary completion: 2026-05-01
• Completion: 2026-05-01
• First posted: 2020-06-09
• Last updated: 2025-08-01

Locations

1 site across 1 country: United States