title: Clinical trials in spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by muscle atrophy and weakness due to degeneration of the anterior horn cells in the spinal cord. A great need exists for an effective treatment of SMA, a disease that often causes severe disability in patients who are cognitively intact and can have a normal life expectancy. Unlike many other neurologic diseases, SMA can be easily diagnosed through genetic testing. Also, preclinical progress over the last 2 decades has been major, with the discovery of the gene and of a "druggable" modifying gene that provides one of several promising targets for treatment. SMA is rare but is a common orphan disease, so trials should be feasible, raising the hope that we will find effective treatments for this disorder.
authors.affiliation: The Neurological Institute, Columbia University, 710 West 168th Street, NY 10032, USA. pk88@columbia.edu
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.forename: Susan T
authors.initials: ST
authors.lastname: Iannaccone
mesh_terms: D002986:Clinical Trials as Topic / Q000379:methods*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000628:therapy*; D017063:Outcome Assessment, Health Care