title: Towards rational drug treatment of Lesch-Nyhan disease.
abstract: Lesch-Nyhan disease (LND) is a rare X-chromosomal purine metabolism disorder. LND is characterized by self-injurious behavior (SIB) for which there is no drug treatment. This commentary places a recent clinical study by Khasnavis et al. (Mol. Genetic. Metab., in press) on drug treatment of SIB into a broader context. Although the study by Khasnavis et al. was no break-through in terms of "positive" results, nonetheless, it presents an excellent model of how clinical studies in general and clinical studies on rare diseases should be conducted.
authors.affiliation: Institute of Pharmacology, Hannover Medical School, Carl-Neuberg-Straße 1, D-30625 Hannover, Germany. Electronic address: seifert.roland@mh-hannover.de.
authors.forename: Roland
authors.initials: R
authors.lastname: Seifert
mesh_terms: D001552:Benzazepines / Q000009:adverse effects* / Q000627:therapeutic use; D017322:Clinical Trials, Phase II as Topic; D018592:Cross-Over Studies; D018492:Dopamine Antagonists / Q000009:adverse effects* / Q000627:therapeutic use; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D017448:Receptors, Dopamine D2 / Q000378:metabolism; D018401:Sample Size; D017211:Treatment Failure
chemical_list: D001552:Benzazepines; D018492:Dopamine Antagonists; D017448:Receptors, Dopamine D2; C058081:ecopipam