A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Summary

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.

Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov

Conditions studied

• 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

Eligibility basics and study details

Study type

Observational

Phase

Not applicable

Ages

1 month to 100 years

Sex

All

Healthy volunteers

Not accepted

Sponsor

National Human Genome Research Institute (NHGRI)

Last updated on ClinicalTrials.gov

August 19, 2026

These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.

US recruiting sites