Nusinersen is designed to increase the production of SMN, a protein that is needed for nerve and muscle function.
SMA is caused by a mutation, or change, in a gene called survival motor neuron 1 (SMN1). This gene produces a protein called survival motor neuron (SMN) that is important for nerve and muscle function. Individuals with SMA do not produce enough of this protein. There is a “back-up” gene called SMN2, that produces a small amount of the SMN protein.
Researchers conducting the DEVOTE study are examining nusinersen to determine its safety and effectiveness at different doses in producing SMN protein.
All study participants will receive the study drug. It is administered through an injection, using a thin needle, into a fluid-filled space at the base of the spinal cord (in the lower back). This type of procedure is called a lumbar puncture. The study doctor will also remove a small amount of cerebrospinal fluid (CSF) during the lumbar puncture for testing.
Below is general information about lumbar punctures and CSF collection. For more detailed information on the study injection, please speak with a member of the study team.
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 DEVOTE study are examining a drug known as nusinersen to determine its safety and effectiveness at higher doses.
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.