Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the degeneration of spinal cord motor neurons, resulting in progressive muscle weakness, paralysis, and atrophy. One treatment option available to patients is called nusinersen. This medication is administered by lumbar puncture (LP; a needle inserted between the bones of your spine) every 4 months after the initial 4 loading doses.
Lumbar puncture, however, can be challenging for some patients due to the presence of spine deformity caused by the disease. Additionally, children usually require anesthesia for this procedure. This study will be utilizing a new investigational research device, called the ThecaFlex DRx (Alcyone Therapeutics) system as an alternative to repeated lumbar puncture.
The ThecaFlex DRx system is a port and catheter that is surgically implanted to provide access to the space between the bones of your spine to avoid the need for repeated lumbar puncture and repeated anesthesia. After the device is inserted, the prescribed nusinersen is administered via the port located just beneath the skin near your abdomen. The catheter guides the medication to the intrathecal space, where it needs to be delivered.
You/your child may qualify for this study if you/they are:
- diagnosed with SMA and are prescribed nusinersen (Spinraza) treatment
- older than 3 years of age
- resistant to lumbar puncture
It is important to note that this study is the first in human for this device and it has not yet been approved by the FDA.