What is pediatric mitochondrial disease? How does the COVID-19 pandemic affect children with this disease?
Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). OXPHOS occurs in microscopic factories in the cell called mitochondria and extracts energy from food and other sources. Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to experience movement disorders, seizures and ongoing injury to their nerve cells.
The COVID-19 pandemic poses a significant threat to this community. When children with mitochondrial disease get sick with any virus, this experience can be life-threatening, as their bodies may not be able to produce enough energy to help fight the infection. Tissues and organs affected by mitochondrial disease are sensitive to the effects of viral infections. As a result, children with this disease may experience worsening organ dysfunction, which may lead to disease progression.
What steps have you taken to address the COVID-19 pandemic in the mitochondrial disease community?
The Metabolism, Infection and Immunity (MINI) Section’s mission is to understand how infection causes life-threatening illness or decline in children with mitochondrial disease. We evaluate their infection risk and immune function, and we document any complications that result from infection. Our goal is to keep these children healthy and infection-free.
Usually, children and their families travel to the NIH Clinical Center for evaluation in the NIH MINI Study (clinicaltrials.gov, NCT01780168), but we understood the risk of exposing our patients to SARS-Co-V2 during travel. As a result, we extended our study to incorporate telemedicine and in-home participation with sample collection.
Through online surveys, we learned that many of our caregivers for children with mitochondrial disease are essential workers, which presents an increased risk in the household. We recently launched a remote study via the NIH MINI Study to assess COVID-19 risk to children with mitochondrial disease by screening all members of the household for SARS-Co-V2 antibodies. This will allow us to remotely assess both risk and consequences of exposure.
What are your thoughts on the recent development of COVID-19 vaccines?
Vaccination is an important way to protect children with mitochondrial disease from the harmful effects of infection. Vaccination is also standard of care for this patient population, and the medical literature indicates that children with mitochondrial disease tolerate childhood vaccines well.
The COVID-19 vaccines are an important part of keeping children with mitochondrial disease healthy. Although the COVID-19 vaccines have yet to be evaluated in children, we are encouraged by their safety and efficacy data. Until the vaccine is available to children with mitochondrial disease, caregivers and family members should be vaccinated to provide “ring immunity” for children who are affected by mitochondrial disease.
Once the pediatric vaccine arrives, we will continue to follow children with mitochondrial disease to document the vaccine’s benefits to this community.
About the Author
Peter McGuire is an investigator and head of the Metabolism, Infection and Immunity (MINI) Section at NHGRI. He is a pediatric medical geneticist and expert on infection and mitochondrial disease.
Last updated: February 8, 2021