TY - JOUR
T1 - Clinical Trials in Spinal Muscular Atrophy
AU - Kaufmann, Petra
AU - Iannaccone, Susan T.
N1 - Funding Information:
Funding for this article was provided by the National Institutes of Health, National Institute of Neurological Disorders and Stroke, RO1 NS39327 (STI), National Institutes of Health 1 UL1 RR024156, and the Spinal Muscular Atrophy Foundation (PK).
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2008/8
Y1 - 2008/8
N2 - 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.
AB - 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.
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U2 - 10.1016/j.pmr.2008.04.006
DO - 10.1016/j.pmr.2008.04.006
M3 - Review article
C2 - 18625422
AN - SCOPUS:46949088643
SN - 1047-9651
VL - 19
SP - 653
EP - 660
JO - Physical Medicine and Rehabilitation Clinics of North America
JF - Physical Medicine and Rehabilitation Clinics of North America
IS - 3
ER -