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Results for “ADSL”

3 trials

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Showing 3 of 3 results

Testing effectiveness (Phase 2)Study completedNCT03776656
What this trial is testing

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

Who this might be right for
Adenylosuccinate Lyase Deficiency
Assistance Publique - Hôpitaux de Paris 8
Not applicableLooking for participantsNCT01238250
What this trial is testing

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Who this might be right for
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+181 more
Simons Searchlight 100,000
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