Spinal Muscular Atrophy (SMA) Biomarkers in the Immediate Postnatal Period of Development (Primary Site Ohio State University, PI Stephen Kolb, MD, PhD)
Spinal muscular atrophy (SMA) is a rare, inherited disease that results in loss of nerves in the spinal cord and weakness of the muscles connected with those nerves. The muscles most frequently affected are those of the neck and trunk that control posture, those of the legs and arms that control movement, and those in the area of the ribs that help breathing.
People with SMA generally appear normal at birth; the symptoms develop as early as 3 months in the most severely affected, around 1 to 2 years of age in the moderately affected, and more rarely in late childhood or adult years in mildly affected individuals.
There is no known treatment for SMA; historically, nearly half of babies born with the most severe form of the disease have died before two years of age. All people with SMA have a higher than normal risk for progressive disability. The most severely affected are at risk for breathing complications and early death.
We are doing this research study because there is strong scientific evidence in animal models of SMA that treatment of SMA may be successful if delivered in the first 3-6 months of age in humans and preferably before symptoms develop. At this time, however, researchers who are developing therapies for SMA find that there is little to no information about how to study infants with SMA during the course of a clinical trial. That is why this study is important. The subjects in this study will teach us how to perform the critical SMA therapeutic clinical trials of the future.
The study will be conducted by the NeuroNEXT Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) in 15 sites around the United States. Up to 54 volunteers will take part in this research study. Information will be collected from two groups: infants diagnosed with SMA and infants without a neurological disease (we will call this group the control group). All infants will be between 0-6 months of age at the time of enrollment. Parents or guardians of the enrolled infants must sign an informed consent form prior to any study procedure being performed. Other inclusion and exclusion criteria may apply.