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

Recruiting

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

Sponsor:

National Human Genome Research Institute (NHGRI)

Code:

NCT06092346

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

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Eligibility Criteria

Study Design

Interventions and Outcome Measures

Central Contacts and Locations

More Information

Trial information was received from ClinicalTrials.gov and was last updated on 2026-04-11. This information was provided to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI) on 2025-09-04.