Not applicableEnrolling By InvitationNCT06912841What this trial is testingDeep Brain Stimulation (DBS) MatchMakerWho this might be right forTOR1APANK2HPRT1+14 more Boston Children's Hospital 500
Early research (Phase 1)Study completedNCT01065558What this trial is testingSafety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan DiseaseWho this might be right forLesch-Nyhan Disease Psyadon Pharma 5
Testing effectiveness (Phase 2)Study completedNCT00004314What this trial is testingPhase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan DiseaseWho this might be right forLesch-Nyhan Syndrome National Center for Research Resources (NCRR) 2
Large-scale testing (Phase 3)WithdrawnNCT00935753What this trial is testingTrial of Kuvan in Lesch-Nyhan DiseaseWho this might be right forBehavioral Manifestations of Lesch-Nyhan Disease University of California, San Diego
Not applicableLooking for participantsNCT06092346What this trial is testingA Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersWho this might be right forAMPD3, 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)
Large-scale testing (Phase 3)Ended earlyNCT01751802What this trial is testingEcopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan DiseaseWho this might be right forLesch-Nyhan DiseaseSelf-injurious Behavior Emalex Biosciences Inc. 9
Not applicableUnknownNCT05548751What this trial is testingPhysiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case ReportWho this might be right forLesch-Nyhan Syndrome Uskudar University 1