A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Public ClinicalTrials.gov record NCT06092346. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT06092346
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 999 participants
Conditions and interventions
Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency
- AK1, OMIM *103000, Adenylate Kinase Deficiency
- AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency
- TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11
- APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency
- HPRT1, OMIM *308000 Lesch-Nyhan Disease
- XDH, OMIM *607633, Xanthinuria Type 1
- SLC2A9, OMIM *606142 Hypouricemia
- SLC22A12, OMIM *607096 Hypouricemia
- PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease
- PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity
- AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia
- ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35
- ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency
- PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency
- ADA2, OMIM *607575,Sneddon Syndrome; VAIHS
- CAD, *1140120, Developmental and Epileptic Encephalopathy
- UPB1, OMIM *606673, Beta-ureidopropionase Deficiency
- DPYS, OMIM *613326, Dihydropyrimidinase Deficiency
- DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency
- DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)
- UMPS, OMIM *613891, Orotic Aciduria
- NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency
- UNG, OMIM *191525, Hyper-IgM Syndrome 5
- AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2
- Purine-Pyrimidine Metabolism
- Metabolic Disease
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 1 Month to 100 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Dec 18, 2023
- Primary completion
- Dec 31, 2098
- Completion
- Dec 31, 2098
- Last update posted
- Aug 18, 2026
2023 – 2099
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT06092346, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 18, 2026 · Synced Sep 7, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06092346 live on ClinicalTrials.gov.