Clinical Trials in Spinal Muscular Atrophy

Petra Kaufmann, Susan T. Iannaccone

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)653-660
Number of pages8
JournalPhysical Medicine and Rehabilitation Clinics of North America
Volume19
Issue number3
DOIs
StatePublished - Aug 1 2008

ASJC Scopus subject areas

  • Physical Therapy, Sports Therapy and Rehabilitation
  • Rehabilitation

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