The NIH is currently conducting a study that will explore the natural history and mechanisms of novel or known but incompletely characterized disorders of pyrimidine and purine metabolism (DPPMs). Eligible participants will be ascertained by identifying biochemical abnormalities in the levels of purines, pyrimidines and related compounds in body fluids, abnormal activity of enzymes, and/or identifying pathogenic variants in genes linked to purines and pyrimidine metabolism. We will collect participants DNA for genetic and genomic analyses, body fluids for biochemical analysis, blood and tissue samples for enzyme analysis, gastrointestinal samples for microbiome analysis. Some participants may undergo skin biopsy. Study subjects will be offered medical, laboratory, and imaging studies at the NIH Clinical Research Center consistent with the standards of care. Collected data will be analyzed to improve understanding of the natural history, develop statistical prediction models, identify and validate novel biomarkers.

Those affected by Lesch-Nyhan as well as Lesch-Nyhan carriers are encouraged to contact Shannon Haines for more information.

Patient Flyer

Link to study

• There is an opportunity to participate in a natural history protocol at the National Institutes of Health (NIH) through National Human Genome Research Institute (NHGRI) in Bethesda, Maryland. Dr. Oleg Shchelochkov, MD and Shannon Haines, CGC are part of the Purine and Pyrimidine Unit of NHGRI and are available for questions. Participation starts via telehealth appointments and involves one weekly visit to the NIH annually. If you have questions about this opportunity, including travel/stay/logistics please contact shannon.haines@nih.gov to set up a phone/video conversation!