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Understanding Clinical and Genetic Features of Pyrimidine and Purine Metabolism Disorders Including Family Members and Healthy Volunteers
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-08-10
999
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- At least one month of age
- Medical history consistent with pyrimidine or purine metabolism disorders (DPPMs) for affected subjects
- Clinical, laboratory, biochemical, or genomic evidence supporting DPPM diagnosis
- Have a primary metabolic, genetic physician, or primary care provider
- Ability to understand and willingness to sign informed consent (or by legally authorized representative)
- For family members: related by blood or marriage to a participant with DPPM and likely to aid genetic or functional analysis
- For healthy volunteers: no personal or family history of DPPMs and no symptoms
- Participants must have a routine clinical care team outside NIH
You will not qualify if you...
- Unaffected volunteers with intellectual disability who cannot provide informed consent without a guardian
- Conditions that interfere with research interpretation, such as ongoing cancer treatment causing bone marrow suppression
- Pregnant participants as unaffected family members or healthy volunteers
- Individuals without a routine clinical care team outside NIH
Research Team
O
Oleg A Shchelochkov, M.D.
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