PHILADELPHIA — October 18, 2022 — People with spinal muscular atrophy are relying on recently approved condition-specific treatments and are hopeful the treatment pipeline can continue to have a positive impact, according to a recent survey conducted by Health Union, the leader in social health. The inaugural Spinal Muscular Atrophy In America survey illuminates the perspectives and experiences of people living with spinal muscular atrophy.
These findings also support and fuel content and engagement for the recent launch of SpinalMuscularAtrophy.net, one of Health Union’s 40 condition-specific online health communities.
Spinal muscular atrophy, or SMA, is a rare chronic condition, with research suggesting up to 25,000 people in the United States are living with the condition. According to the National Institute of Neurological Disorders and Stroke, SMA is an inherited condition that affects nerves and muscles, caused by a mutation in the survival motor neuron, or SMN, gene. Without the protein produced by the SMN gene, people with SMA lose motor neurons in their spinal cord, leading to weakness in the skeletal muscles and often making it harder to speak, walk, breathe and swallow.
Over the past six years, the U.S. Food and Drug Administration has approved the first three treatments specifically for spinal muscular atrophy. These gene therapy treatments increase the amount of SMN protein in the body. In fact, three-fourths of Spinal Muscular Atrophy In America survey respondents said they currently use an “SMN-enhancing” treatment, while another 19% said they previously used one.
SpinalMuscularAtrophy.net patient leader Allie Williams is using one of these SMN-enhancing treatments, which she says has stopped the progression of her spinal muscular atrophy while also helping her make “tremendous gains physically and mentally.”
“It 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.”
Despite this progress in treatment, experiences differ, especially when factoring in condition progression and symptoms experienced. Only three in 10 respondents consider their SMA controlled under their current treatment plan, and 74% remain worried about their condition progressing.
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’s 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, seven in 10 respondents said they are hopeful future treatment breakthroughs will happen in their lifetime.
Fortunately, two-thirds of respondents agree they have reliable access to medical care or treatment, although 44% said finances prevent them from receiving the care they need. Luckily, 44% said they are confident they’re doing everything necessary – a mixture of treatments, specialists and other healthcare professionals, assistive devices and other life modifications – to manage their SMA on a regular basis.