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Clinical Outcome Measures in Spinal Muscular Atrophy

Department of Neurology, Columbia University Medical Center, New York, jm598{at}columbia.edu

Andrew M. Gordon, PhD

Department of Biobehavioral Sciences Teachers College, Columbia University, New York

Shree Pandya, PT, MS

School of Medicine and Dentistry, University of Rochester, Rochester, New York

Darryl C. De Vivo, MD

Department of Neurology, Columbia University Medical Center, New York

Petra Kaufmann, MD, MSc

Department of Neurology, Columbia University Medical Center, New York

Spinal muscular atrophy is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from often severe muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Identification of the causative genetic mutation in most cases has resulted in development of potential treatment strategies. To test these new drugs, clinically feasible outcomes are needed. Several different assessments, validated in spinal muscular atrophy or similar disorders, are being used by national and international research groups; however, their sensitivity to detect change is unknown. Acceptance of a few standardized, easily administered, and functionally meaningful outcomes, applicable to the phenotypic spectrum of spinal muscular atrophy, is needed. Consensus is imperative to facilitate collaboration and explore the ability of these measures to identify the therapeutic effect of disease-modifying agents. Following is an evidence-based review of available clinical outcome measures in spinal muscular atrophy.

Key Words: spinal muscular atrophy • outcome measures • clinical trials

This version was published on August 1, 2009

Journal of Child Neurology, Vol. 24, No. 8, 968-978 (2009)
DOI: 10.1177/0883073809332702


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