Not applicableLooking for participantsNCT06092346
What this trial is testing
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Who this might be right for
AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more
National Human Genome Research Institute (NHGRI) 999