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Challenges and opportunities in clinical trials for spinal muscular atrophy

From the National Institute of Neurological Disorders and Stroke (Drs. Hirtz, Heemskerk, and Gwinn-Hardy), NIH, Bethesda, MD; Children's Medical Center, University of Texas Southwest (Dr. Iannaccone), Dallas; University of Rochester Medical Center (Dr. Moxley), NY; and Columbia University (Dr. Rowland), New York, NY.

Address correspondence and reprint requests to Dr. Deborah Hirtz, 6001 Executive Blvd., Room 2212, Bethesda, MD 20892; e-mail: hirtzd{at}ninds.nih.gov

Spinal muscular atrophy (SMA) is the most common fatal neuromuscular disease of infancy. SMA type I is the most severe and mortality is usually due to respiratory failure. In type II the disability is of later onset and less severe, and prognosis has improved primarily due to supportive care. Type III is the mildest form with onset usually of weakness in adolescence or young adulthood. SMA is an autosomal recessive disorder with deletions or mutations of the gene at the 5 q11 locus. There is no specific prevention or treatment, but current progress toward potential therapies has been substantial and several candidates including histone deacetylase (HDAC) inhibitors are under consideration for further evaluation. The authors sought to address the challenges and opportunities for testing new therapies for SMA.

Disclosure: The authors report no conflicts of interest.

The views presented here arose from a meeting of investigators involved in SMA and relevant other fields sponsored by the National Institute of Neurologic Disorders and Stroke and the Office of Rare Diseases, NIH, on September 29–30, 2004.

Received January 12, 2005. Accepted in final form July 7, 2005.

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