Understanding Clinical and Genetic Features of Pyrimidine and Purine Metabolism Disorders Including Family Members and Healthy Volunteers

What this Trial Is About

Researchers are studying pyrimidine and purine metabolism disorders DPPMs, which affect how the body processes certain chemicals and can lead to problems in the brain, blood, kidneys, and immune system. These disorders vary widely in severity, and this study aims to better understand their causes, features, and outcomes by observing affected individuals, their family members, and healthy volunteers. Participants with DPPMs will visit the clinic at least once a year, sometimes more often. They will undergo physical exams and provide samples of blood, urine, saliva, and stool. Additional tests may include skin and mouth swabs, heart, kidney, brain, and nerve function tests, questionnaires about diet, dental, hearing, and vision exams, learning ability assessments, physical activity monitoring, imaging scans, and photographs. These evaluations may take place over several days, and affected participants can stay in the study indefinitely if they choose. Family members and healthy volunteers will have a single study visit with physical exams and sample collection. Participants will be closely monitored through various medical, laboratory, and imaging studies to gather detailed information. Researchers will analyze genetic material, biochemical markers, enzyme activities, microbiome samples, and clinical data to identify factors related to DPPMs. The study aims to describe features of these disorders and discover genetic, clinical, laboratory, and dietary elements that influence health outcomes. The study may continue for many years, allowing ongoing observation and data collection.

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders