Spinraza - A Treatment for Spinal Muscular Atrophy

December 2016, Spinraza (Nusinersen) became the first approved drug used in treating Spinal Muscular Atrophy (SMA).  Besides keeping everyone updated regarding Ian's journey and our family, one of my goals regarding the blog has been to education. SMA is a hereditary disease that causes weakness and muscle wasting because of the loss of lower motor neurons controlling movement. There is a wide variability in age of onset, symptoms and rate of progression. Spinraza is used only for those with SMA, to be clear this would not of helped Ian, as Spinraza is designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency. Ian had an altercation of the VRK1 gene at 14q32.2, meaning he did not have SMA but SMA with PCH.  It is designed to modify SMA.  Spinraza is approved for use across the range of spinal muscular atrophy patients. According to the Spinraza information sheet, in a controlled study, individuals with infantile-onset SMA treated with Spinraza achieved a clinically meaningful improvement in motor function compared to untreated individuals. In open-label, uncontrolled studies in individuals who had or were likely to develop Type 1, 2 or 3 SMA, some individuals treated with Spinraza showed improvements, including:

• The achievement of milestones such as the ability to sit independently, stand, or walk when they would otherwise be unable to do so.
• Maintaining milestones at ages when they would be expected to lose them.
• Surviving longer than expected considering the typical course of their disease (number of SMN2 copies).

This is a wonderful break through for those with SMA and the rare disease community. It gives hope.