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
Study identification
- NCT ID
- NCT06092346
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Enrollment
- 999 participants
Conditions and interventions
Conditions
- ADA2, OMIM *607575,Sneddon Syndrome; VAIHS
- ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency
- AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2
- AK1, OMIM *103000, Adenylate Kinase Deficiency
- AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency
- AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia
- AMPD3, OMIM*102772, AMP Deaminase Deficiency
- APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency
- CAD, *1140120, Developmental and Epileptic Encephalopathy
- DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)
- DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency
- DPYS, OMIM *613326, Dihydropyrimidinase Deficiency
- HPRT1, OMIM *308000 Lesch-Nyhan Disease
- IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11
- ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35
- Metabolic Disease
- NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency
- PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency
- PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease
- PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity
- Purine-Pyrimidine Metabolism
- SLC22A12, OMIM *607096 Hypouricemia
- SLC2A9, OMIM *606142 Hypouricemia
- TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- UMPS, OMIM *613891, Orotic Aciduria
- UNG, OMIM *191525, Hyper-IgM Syndrome 5
- UPB1, OMIM *606673, Beta-ureidopropionase Deficiency
- XDH, OMIM *607633, Xanthinuria Type 1
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
- Sep 3, 2025
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 Sep 3, 2025 · Synced May 21, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06092346 live on ClinicalTrials.gov.