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Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

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Record identity and dates

Source
ClinicalTrials.gov
Source record ID
NCT06092346
Title field or adapter rule
protocolSection.identificationModule.officialTitle
Ingested At
2026-04-25T22:27:22.105511+00:00
Published At
2025-09-04T00:00:00+00:00
Record Updated At
2025-09-04
Timestamp Basis
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Date limitation
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Fields recorded by this source

protocolSection.conditionsModule.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\u003cTAB\u003e, 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"]
protocolSection.statusModule.lastUpdatePostDateStruct.date
"2025-09-04"
protocolSection.identificationModule.nctId
"NCT06092346"
protocolSection.identificationModule.officialTitle
"Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders"
protocolSection.statusModule.overallStatus
"RECRUITING"
protocolSection.designModule.phases
[]
protocolSection.statusModule.resultsFirstPostDateStruct.date
""

Study condition terms

  • AMPD3, OMIM*102772, AMP Deaminase Deficiency (protocolSection.conditionsModule.conditions)
  • AK1, OMIM *103000, Adenylate Kinase Deficiency (protocolSection.conditionsModule.conditions)
  • AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency (protocolSection.conditionsModule.conditions)
  • TPMT, OMIM *187680, Thoipurines, Poor Metabolism of (protocolSection.conditionsModule.conditions)
  • IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11 (protocolSection.conditionsModule.conditions)
  • APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency (protocolSection.conditionsModule.conditions)
  • HPRT1, OMIM *308000 Lesch-Nyhan Disease (protocolSection.conditionsModule.conditions)
  • XDH, OMIM *607633, Xanthinuria Type 1 (protocolSection.conditionsModule.conditions)
  • SLC2A9, OMIM *606142 Hypouricemia (protocolSection.conditionsModule.conditions)
  • SLC22A12, OMIM *607096 Hypouricemia (protocolSection.conditionsModule.conditions)
  • PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease (protocolSection.conditionsModule.conditions)
  • PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity (protocolSection.conditionsModule.conditions)
  • AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia (protocolSection.conditionsModule.conditions)
  • ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35 (protocolSection.conditionsModule.conditions)
  • ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency (protocolSection.conditionsModule.conditions)
  • PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency (protocolSection.conditionsModule.conditions)
  • ADA2, OMIM *607575,Sneddon Syndrome; VAIHS (protocolSection.conditionsModule.conditions)
  • CAD, *1140120, Developmental and Epileptic Encephalopathy (protocolSection.conditionsModule.conditions)
  • UPB1, OMIM *606673, Beta-ureidopropionase Deficiency (protocolSection.conditionsModule.conditions)
  • DPYS, OMIM *613326, Dihydropyrimidinase Deficiency (protocolSection.conditionsModule.conditions)
  • DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency (protocolSection.conditionsModule.conditions)
  • DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis) (protocolSection.conditionsModule.conditions)
  • UMPS, OMIM *613891, Orotic Aciduria (protocolSection.conditionsModule.conditions)
  • NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency (protocolSection.conditionsModule.conditions)
  • UNG, OMIM *191525, Hyper-IgM Syndrome 5 (protocolSection.conditionsModule.conditions)
  • AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 (protocolSection.conditionsModule.conditions)
  • Purine-Pyrimidine Metabolism (protocolSection.conditionsModule.conditions)
  • Metabolic Disease (protocolSection.conditionsModule.conditions)

Intervention details are not present in the imported fields for this record. No drug-condition relationship is inferred from co-listing.

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