Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinants of Pyrimidine and Purine Metabolism Disorders

What this Trial Is About

Researchers are studying pyrimidine and purine metabolism disorders (DPPMs), which affect how the body processes certain chemicals and can cause a range of symptoms from mild to severe, impacting the brain, blood, kidneys, and immune system. This research aims to better understand the causes, features, and outcomes of these disorders by comparing affected individuals, their unaffected family members, and healthy volunteers. The study focuses on both known and novel DPPMs and seeks to identify genomic, clinical, pharmacological, laboratory, and dietary factors influencing disease variability. Participants are divided into three groups: those diagnosed with DPPMs, their family members without the disorder, and healthy volunteers. Affected participants visit the clinic at least once a year, undergoing physical exams, sample collections (blood, urine, saliva, stool), and various tests depending on symptoms, which may include skin and mouth swabs, heart, kidney, brain, and nerve function tests, dental, hearing, and vision exams, learning assessments, physical activity monitoring, imaging scans, and photographs. These evaluations may be spread over up to seven days, and affected participants may remain in the study indefinitely. Family members and healthy volunteers have a single study visit with a physical exam and sample collections. Throughout the study, researchers collect DNA and biological samples for genetic, biochemical, enzyme, and microbiome analyses. The study includes detailed clinical and laboratory assessments to track disease features and variability. Participants' medical, laboratory, and imaging data are collected following standard care protocols. The primary outcome is to describe features of poorly characterized DPPMs, while secondary outcomes focus on identifying factors associated with different clinical results. The study involves long-term monitoring and may continue indefinitely for affected individuals.

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