Actively Recruiting
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Led by National Human Genome Research Institute (NHGRI) · Updated on 2025-09-04
999
Participants Needed
1
Research Sites
3915 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.
CONDITIONS
Official 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...
- Three types of participants are eligible: individuals with known DPPMs, their family members, and healthy volunteers.
- Participants with known DPPMs must be at least 1 month old.
- Must have a medical history consistent with DPPMs based on clinical, laboratory, biochemical, or genomic evidence.
- Clinical signs may include congenital malformations, neurological, behavioral, immunological, rheumatological, hematological, renal issues, gout, or recurrent rhabdomyolysis.
- Laboratory signs may include elevated CPK, neutropenia, lymphopenia, anemia, thrombocytopenia, or immunodeficiency.
- Biochemical evidence may include abnormalities in blood or urine urate, beta-alanine, plasma amino acids, or purine and pyrimidine panels.
- Genomic evidence may include pathogenic variants in genes related to purine and pyrimidine metabolism.
- Must have a primary metabolic or genetic physician or primary care provider.
- Ability and willingness to provide informed consent or have a legally authorized representative consent.
- Unaffected family members must be at least 1 month old and related by blood or marriage to a participant with DPPM.
- Family members must be likely to contribute to genetic or functional analysis of the affected relative.
- Healthy volunteers must be at least 1 month old with no personal or family history or symptoms of DPPMs.
- All participants must have a routine clinical care team outside of NIH and be willing to consent.
You will not qualify if you...
- Unaffected unrelated volunteers with intellectual disability preventing informed consent without a guardian are excluded.
- Individuals with other conditions interfering with research interpretation, such as ongoing cancer treatment causing bone marrow suppression, are excluded.
- Pregnant participants who are unaffected family members or healthy volunteers cannot join during pregnancy.
- Participants without a routine clinical care team outside of NIH are not eligible.
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
O
Oleg A Shchelochkov, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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