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NINDS to Fund Biomarkers for Spinal Muscular Atrophy

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Institute of Neurological Disorders and Stroke plans to award a $1.8 million grant next year to fund a study to evaluate biomarkers for spinal muscular atrophy (SMA).

SMA occurs in around 1 in 6,000 live births, is associated with a mutation in chromosome 5, and is among the most common genetic causes of infantile death.

This group of inherited diseases is characterized by atrophy of muscle, degeneration of motor neurons, and denervation between the spinal cord and muscle. For the most severe form of the disease, the lifespan of patients is expected to be around two to three years, and others may live later into childhood, or into early adulthood.

Drug targets for SMA have been discovered, but clinical development has been hampered in part by a need for qualified markers of disease progression or of disease amelioration.

NINDS is seeking to fund research that will evaluate biomarkers and clinical outcomes longitudinally and across the spectrum of SMA cases. The grant winner also will establish a clinical outcomes and biomarker database, and it will contribute samples to the NINDS biorepository at the Coriell Institute for Medical Research.

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