Clinical trial
Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
NCT06092346 is registered in ClinicalTrials.gov with National Human Genome Research Institute (NHGRI) as lead sponsor.
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Registry record
As filed in ClinicalTrials.gov.
- Title
- Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Phase
- Observational
- Overall status
- Recruiting
- Start date
- December 19, 2023
- Completion date
- January 1, 2099
- Enrollment
- 999 (estimated)
- Sites
- 1
Conditions
As the registry lists them; a condition with its own page is linked.
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