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

Clinical trial NCT06092346 · RECRUITING

Trial details

NCT number: NCT06092346
Sponsor: National Human Genome Research Institute (NHGRI)
Status: RECRUITING
Study type: OBSERVATIONAL

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

Start date: 2023-12-19
Primary completion: 2099-01-01
Enrollment: 999

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