The National Institutes of Health (NIH) is seeking patients for a natural history study of Leigh syndrome and its relationship to infection.
According to Peter J. McGuire MS, MD, the lead investigator for the study, infection can lead to the first presentation of Leigh syndrome in a patient, as well as a decline in a diagnosed individual. The goal for the study is to learn about the relationship between infection and Leigh syndrome, help patients prevent infections and improve the process of caring for Leigh syndrome patients who acquire infections.
"This study is open to all individuals with Leigh Syndrome regardless of whether they have had a problem with infection. Although most patients have a risk of decline with infection, some do no not decline, and it is equally important to learn from these individuals what protects them as well," said Dr. McGuire.
Participants who are able to travel will be evaluated at the NIH Clinical Center in Bethesda, MD. Evaluations will take 3-4 days by a multidisciplinary team. The evaluations will be available for families and their health providers.
Participants may return yearly or more often depending on their level of participation.Families who are unable to travel can be enrolled remotely to capture medical records and samples.
For more information, visit www.genome.gov/MINI.