New era of SMA care focuses on whole-body, long-term health
Rare genetic condition now being managed across all stages of life
Brian Lin, research portfolio director for the Muscular Dystrophy Association, believes it's a new era for spinal muscular atrophy treatments. (Courtesy of Muscular Dystrophy Association)
New treatments for spinal muscular atrophy (SMA) are helping many people live longer, fuller lives, changing what it means to grow up — and grow older — with the condition.
SMA is now being managed across all stages of life, shifting care from palliative support toward long-term health and independence.
Brian Lin, PhD, the research portfolio director for the Muscular Dystrophy Association (MDA), says this marks a new era in SMA treatment, where disease-modifying therapies are combined with a focus on SMA as a whole-body condition.
“It changes the psychological states of everyone, where they’re able to think about having a future,” he says.
Redefining SMA care
Until recent years, SMA treatments mainly focused on infants and young children, helping them achieve developmental milestones.
For older people with SMA, a gradual progression of symptoms was expected, viewed as an inevitable part of the disease’s natural course.
However, according to Lin, studies have shown that when treated with disease-modifying therapies, older people with SMA can have stabilized motor function and more independence.
He points to the SUNFISH study, which showed that an oral medication can help stabilize or improve motor function in people ages 2 to 25 with SMA type 2 or 3.
“Those were big results because, if we look at the natural history of that patient population, it would be a gradual decline. Stabilization had a huge impact on their disease progression,” Lin explains.
That stabilization has translated into more than clinical gains. With improved motor function and endurance, more people living with SMA are now pursuing college degrees, advancing in careers, and enjoying experiences like travel — opportunities that once seemed out of reach for many people with the rare genetic condition, he adds.
A shift to whole-body care
Another lesson learned from SUNFISH and other clinical trials, Lin says, is that SMA treatments are not one-size-fits-all, as no single therapy works the same way for everyone.
This understanding has helped shift the care model toward whole-body care. It’s an approach that looks beyond neuromuscular symptoms to the many systems SMA can affect.
“[Medication] doesn’t address all of the symptoms of SMA. We know that SMA affects many other areas: the respiratory, the cardiac, metabolic, and bone health,” he notes.
To meet these greater needs, multidisciplinary care centers, such as those supported by MDA’s Care Center Network, bring together specialists who can provide coordinated, long-term care. This care may include early respiratory support, physical and occupational therapy programs, nutritional guidance, and mental health services.
This type of integrated approach can make a big difference in daily life.
“[It] eases a lot of the burden on the patients, where they can get all the care for all these different symptoms, not just the neuromuscular symptoms, in one place,” says Lin. “All of these areas can be addressed at once.”
Transitioning from pediatric to adult healthcare
With medical advances supporting longer and fuller lives, planning for life’s transitions has become part of comprehensive SMA care.
Making the transition from pediatric to adult healthcare can be one of the biggest adjustments. Young adults with SMA are learning to make medical decisions on their own, advocate for their needs, and manage complex routines, while receiving continued support from their families and care teams.
“We’re now seeing children grow up to become adults and have careers. A lot of that is transition planning,” Lin explains, adding that mental health support is also an essential part of the process.
Through its Mental Health Hub, MDA connects people with SMA and their families to mental health professionals, support groups, counseling services, and other resources.
Lin emphasizes that a focus on emotional wellness can strengthen resilience and help people manage uncertainty, anxiety, and depression that may accompany living with a chronic condition like SMA.
The next chapter in SMA innovation
Looking ahead, Lin expects innovation and research to continue moving forward, though he acknowledges there are still gaps, especially in care for older people with SMA.
“We still need a lot of data about how these drugs are affecting adults and older children,” he says, “and we need more interventions that are more tailored to [those] who have progressed a lot more or have gotten treatments a little bit later.”
In pursuing those answers, Lin points to digital health technologies as a valuable tool.
Continuous data collection through wearable sensors can track changes over time, offering particular benefits for adults with SMA. Wearable sensors enable clinicians to remotely monitor patients and adjust treatments in real time, he notes.
Another promising area is combination therapies, which try to tackle SMA from multiple angles by targeting both the SMN protein deficiency and muscle strength.
Lin shares his optimism for muscle-directed treatments that work with existing therapies, especially for those who begin treatment later in life.
For example, one therapy might increase the SMN protein that people with SMA are missing, while another focuses on strengthening muscles directly. This dual approach may help address different aspects of the disease for those who have experienced more progression before starting treatment.
Building on that potential, Lin also highlights current research into stem cell and muscle regeneration therapies. Both are in the early stages but may eventually address lost muscle function and damaged neurons, offering hope to people with SMA of all ages.
All this reflects how the field of SMA care is undergoing a transformative period, widening its scope from infancy to adulthood, with strategies that support long-term health and independence.
As Lin puts it, “We’re building on progress every day, with new therapies and approaches in the pipeline that hold real promise for changing what living with SMA looks like in the years ahead. And that gives us hope.”
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