Most People with Spinal Muscular Atrophy Utilize Gene Therapy

The Health Union recently conducted a survey called Spinal Muscular Atrophy (SMA) in America to analyze the lives of people living with SMA in the United States. This rare chronic condition impacts nearly 25,000 people in the US. The survey found that most people with SMA in the US opt to utilize gene therapies.

The disease is caused by a mutation in the survival motor neuron genes. This mutation alters the protein produced, causing people to lose motor neurons in the spinal cord. This condition also leads to weakened skeletal muscles, which impair speech and other motor functions.

According to the press release, the FDA has approved three SMA treatments. These gene therapies only became available in the past three years. The study found that 75% of the patients surveyed used one of these gene therapies. An additional 20% said that they had to use one in the past.

In the press release, SpinalMuscularAtrophy.net patient leader Allie Williams said using an SMA gene therapy “has improved my quality of life by letting me do things I wasn't able to do before, like feeding myself, drawing, painting, playing video games, and doing my own makeup," Williams said. "Being more independent and being able to do more things I enjoy by myself has improved my happiness beyond measure."

Although these treatments are available and have been a significant asset to some patients and providers, nearly three-quarters of patients with SMA are worried about disease progression. Only 30% believe their SMA is well controlled with their current treatment.

The press announcement stated, “with this in mind, it is unsurprising that the treatment pipeline remains a priority for people with SMA. When seeking information about their condition, respondents’ top topics of interest — with the exception of assistive devices to improve daily life — all revolved around treatment, including new treatments in the pipeline, other SMA patients' experiences with treatments, research, and clinical trials for SMA. On top of that, 7 in 10 respondents said they are hopeful future treatment breakthroughs will happen in their lifetime.”

This study may inform future research directions and incentivize spending on SMA treatments and tools. Providers should monitor up-and-coming therapies and discuss gene therapies with newly or previously diagnosed patients.