COLUMBUS, Ohio – Basic science researchers from The Ohio State University College of Medicine received a three-year, $2.1 million award from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health to study predictive and surrogate biomarkers associated with the progression of spinal muscular atrophy (SMA), the leading genetic cause of death in infants. The scientists believe identification of such prognostic and surrogate indicators will facilitate ongoing and future therapeutic clinical trials for infants with SMA.
Spinal muscular atrophy is the most common lethal genetic disease in infants and young children. SMA results from reduced levels of the survival of motor neuron (SMN) protein, which leads to the selective degeneration of motor neurons in the spinal cord. Clinically, SMA is characterized by progressive muscle weakness and, in severe (type 1) cases, can lead to respiratory failure and death within the first year of life.
“The majority of patients with SMA have a homozygous deletion in the SMN1gene, which reduces the amount functional SMN proteins in cells. Preclinical animal models of severe SMA have shown that delivery of more SMN protein to spinal motor neurons can block disease progression if that treatment occurs within the first days of life,” says Dr. Stephen Kolb, a physician-scientist at The Ohio State University Wexner Medical Center and assistant professor of neurology and molecular and cellular biochemistry at Ohio State’s College of Medicine.
“It is important that we establish accurate biomarkers in the infant SMA protein that are both prognostic and indicative of disease severity so that intervention-base, large scale clinical trials can be conducted in the most efficient way and with the highest likelihood of success,” adds Kolb, also protocol principal investigator of the study.
The study is being conducted by the Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) at 15 sites across the country. Researchers will recruit up to 54 volunteers and information will be collected from infants diagnosed with SMA and a control group of infants without a neurological disease.
NeuroNEXT fosters collaboration by connecting centers studying the same disease to improve future trials for patients. It allows clinical sites to efficiently design and implement pediatric and adult clinical trials encompassing the entire spectrum of neurologic diseases. Clinical sites will be able to consolidate resources, integrating the efforts and components of experienced neuroscience clinical trial groups more fully into existing initiatives.