Nusinersen vs No Treatment

These children were born one month apart. They were very similar at first. Neither could move their arms and legs well, they could not hold up their heads, and their parents heard the words Spinal Muscular Atrophy.

G has not been in any trials. His parents follow the standards of care for SMA and use many machines to help keep him healthy. He is stronger than some type 1’s and can move his forearms and can wiggle his head back-and-forth at times. But, he lost his swallow by six month old and cannot even tolerate his own secretions. He has no core body strength and cannot sit, roll, or hold up his head up. He spends 95% of his time laying flat to protect him from choking. G cannot play with most toys as they are too heavy for his little arms to lift. This is the typical course of life for a type 1 child. Like G, most have to use BiPAP for ventilation and some become completely dependent on it, 24 hours a day, to live.

H’s course changed when at five months old she received her first injection of Nusinersen. Slowly, she began to gain strength rather than lose it. She can still eat some by mouth and she does not require suctioning of her secretions. H can sit up unsupported, hold her head up, and move her arms and legs freely. She can play and roll. This is all because of the Nusinersen treatment that she has been receiving for the last 23 months.

This drug has shown safety and efficacy. This drug has Orphan Drug designation for the rare disease of SMA. This special designation has many benefits in regards to FDA approval. There are currently placebo trials being done in type 1 children. They continue to get weaker and weaker while not receiving the drug. It is time to stop placebo trials and get this drug approved NOW. Time is not something those living with SMA have. It is a progressive disease in which strength is lost over time. All of the muscles used for moving, eating, and breathing are affected. SMA is the #1 genetic killer of children under 2 years old. 50% of type 1’s don’t see it to their first birthday and 90% don’t see it to their second birthday without interventional cares.