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

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Summary

The NHGRI-sponsored study is a natural history project to understand clinical, genomic, pharmacological, laboratory, and dietary factors in pyrimidine and purin…

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Diseases / indications

• Adenylosuccinate Lyase Deficiency
• Arts Syndrome
• Dihydropyrimidinase Deficiency
• Dihydropyrimidine Dehydrogenase Deficiency
• Lesch-nyhan Syndrome
• Orotic Aciduria
• Renal Hypouricemia Type
• Xanthinuria Type

Snippet

Sponsor: National Human Genome Research Institute (NHGRI) | Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency | Status: RECRUITING