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January 21, 2016
Findings of the study published online today in the Annals of Clinical and Translational Neurology.
The prospective, multi-center study enrolled 26 SMA infants and 27 healthy control infants less than 6 months of age from November 2012 to September 2014.
Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT), which is an NIH-sponsored clinical trial network. The study assessed infant motor function scales and possible electrophysiological, protein and molecular biomarkers at baseline and subsequent visits. SMA is the leading genetic cause of infant death and affects motor neurons in the spinal cord.
“For the first time, we are studying motor function and a number of physiological and molecular outcome measures in SMA and healthy infants in a way that can be used to accelerate clinical trials in SMA,” said principal investigator Dr. Stephen Kolb, who specializes in researching and treating patients with neuromuscular diseases at Ohio State’s Neurological Institute. “This study found, for example, that by the time infants were recruited and presented for the baseline visit, SMA infants had reduced motor function compared to control infants. This type of information is essential to current and planned clinical trials in SMA, including gene therapy.”
SMA belongs to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorder is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1) and retention of the SMN2 gene. Both of these genes produce the essential protein, SMN, but SMN2 produces considerably less. With the reduced levels of this protein, motor neurons in the spinal cord degenerate and die. About 1 in 10,000 births have SMA.
Previous research has shown that restoring SMN will fix the underlying problem in SMA, and the major questions have been how to restore SMN and what effect it has when restored at different stages of the disease.
This is also the premier publication for the National Institutes of Health-sponsored NeuroNEXT Clinical Trial Network. NeuroNEXT, comprised of 25 top academic Neurology departments across the country, a central coordinating center and a data coordinating center, was designed to streamline clinical trial development in neurological diseases. An editorial in the Annals of Neurology, heralding the success of the SMA Biomarker Study and the NeuroNEXT Network will accompany the study.
"Without the NeuroNEXT Network, a natural history study in SMA infants of this type would not have been possible," said Kolb. "This is a wonderful example of a public investment in science that benefits both public and private stakeholders concerned with drug development in the SMA field."
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