Lesch-Nyhan Syndrome (DBCOND0002566)
Identifiers
- Synonyms
- Hypoxanthine-guanine phosphoribosyl transferase deficiency / Lesch-Nyhan Disease / Lesch-Nyhan syndrome / Lesch-Nyhan syndrome (disorder) / Deficiency of hypoxanthine phosphoribosyltransferase (disorder) / HGPRT deficiency / Total hypoxanthine-guanine phosphoribosyl transferase deficiency
Associated Data
- Indicated Drugs and Targets
Drug Description Targets Allopurinol A xanthine oxidase inhibitor used to reduce urinary and serum uric acid concentrations in patients with gout, recurrent calcium oxalate calculi, and various malignancies.- Xanthine dehydrogenase/oxidasetarget
- Organic anion transporter 3transporter
- Solute carrier family 22 member 7transporter
- Aldehyde oxidaseenzyme
- Xanthine dehydrogenase/oxidaseenzyme
- Broad substrate specificity ATP-binding cassette transporter ABCG2transporter
- Solute carrier family 22 member 2transporter
- Clinical Trials
Identifier Title Drug(s) Purpose Phase Status NCT05548751 Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report No drug interventions Not Available Not Available unknown_status NCT00004314 Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease No drug interventions treatment 2 completed NCT01751802 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease treatment 3 terminated NCT01065558 Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease treatment 1 completed