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Phys Med Rehabil Clin N Am. 2008 Aug;19(3):653-60, xii. doi: 10.1016/j.pmr.2008.04.006.

Clinical trials in spinal muscular atrophy.

Author information

1
The Neurological Institute, Columbia University, 710 West 168th Street, NY 10032, USA. pk88@columbia.edu

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.

PMID:
18625422
DOI:
10.1016/j.pmr.2008.04.006
[Indexed for MEDLINE]

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