SMA is a rare genetic disease that affects the nerves in the spinal cord, causing severe muscle weakness, loss of movement, and difficulty breathing. It is an autosomal recessive genetic disorder, which means that generally both parents must carry a mutated SMN1 gene for their baby to inherit SMA. Because each parent typically has only one mutated SMN1 gene, the parents do not have SMA. They are considered “carriers.” SMA affects approximately 1 out of every 10,000 babies.
While there are now treatment options, there is still no cure for SMA, and unmet medical needs remain.
Researchers conducting the RESPOND Study are examining the drug nusinersen to determine its safety and efficacy for children who have previously taken onasemnogene abeparvovec.
Clinical studies are conducted to answer questions about the disease and investigational approaches, providing information that may help with the development of future medical treatments.