Hope on the horizon: Science’s promise for spinal muscular atrophy
SMA expert at the MDA discusses research breakthroughs, treatment directions
Brian Lin is optimistic about the future for spinal muscular atrophy treatments. (Courtesy of Muscular Dystrophy Association)
Brian Lin is watching how science is improving spinal muscular atrophy (SMA) treatment today and making advancements with the potential to reshape SMA care for tomorrow.
“The most significant breakthroughs actually happened fairly recently, over the last five years,” says Lin, the research portfolio director at the Muscular Dystrophy Association (MDA).
Despite the advancements in SMA treatment, many unanswered questions and unmet needs remain, underscoring the importance of continued research and new approaches to improve healthcare for everyone living with SMA.
SMA treatment advancements
About 15 years ago, a key breakthrough was made in the genetic cause of SMA.
The most common types of SMA (types 0, 1, 2, 3, and 4) are caused by mutations in the SMN1 gene, which leads to low levels of a protein called SMN. SMN is necessary for nerve cells that control muscles — called motor neurons — to survive and work properly.
The research showed that adjusting the function of a “backup” gene called SMN2 could help people with SMA make more SMN.
We’re building on those early breakthroughs 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.
The finding helped lead to the development of the first treatment approved specifically for SMA in 2016. It was also the first therapy shown to slow SMA progression.
“We’re building on those early breakthroughs every day,” says Lin, “with new therapies and approaches in the pipeline that hold real promise for changing what living with SMA looks like in the years ahead.”
Newborn SMA screening
Diagnosing SMA before symptoms appear is essential to starting treatment quickly and helping children achieve developmental milestones once thought impossible.
But while the approval of the first targeted treatment was a turning point for SMA, early diagnosis remained a challenge. A game-changer was the rollout of newborn screening for SMA across all 50 U.S. states.
Beginning in early 2024, every baby should be tested for SMA shortly after birth, which means that possibly life-changing interventions can begin as soon as possible.
It is what Lin calls “a transformative moment.”
Increasing SMN protein
In addition to screening newborns for SMA, which leads to diagnosing SMA earlier, treatment options are also bringing hope for people at every stage of the condition.
Newer therapies, such as a daily oral medicine and gene therapy, have shown that they can improve strength and breathing in both children and adults.
These treatments can boost SMN protein levels in different ways, offering more options to address individual needs.
“For infants, we expect them to hit developmental milestones,” says Lin. “For older individuals, these therapies may help stop the disease from getting worse.”
Looking ahead, researchers are exploring next-generation treatments. These include studying higher doses of existing therapies and new drugs that are designed to be safer, longer-lasting, and easier to use, including one that would only be given yearly.
“That would considerably improve the quality of life of individuals if they only needed to go to the clinic once per year instead of four or five times per year to get dosed,” says Lin.
Muscle-directed and combination therapies
A promising muscle-targeted therapy under development blocks myostatin, a protein that inhibits muscle growth.
“This [therapy] will be used in combination with the existing therapies to hopefully improve muscle strength, which is a great unmet need for the field of SMA,” says Lin, “especially for those who get treatment a little bit later [in life].”
While this muscle-targeted approach shows promise, Lin says research into stem cells and muscle regeneration remains in the early stages.
Digital health technologies are another growing area for SMA care. Wearable sensors and at-home motor assessments are being integrated into research and clinical trials.
These wearable devices can collect detailed data on daily movement, strength, and respiratory function.
“Digital health technologies allow patients to track their progression,” says Lin, adding that “clinicians can adjust care accordingly.”
Ongoing monitoring can help make treatment plans more responsive to a person’s needs and support timely changes based on their specific data.
These devices can also help monitor disease progression in older people with SMA who may have trouble managing frequent clinic visits.
Lin says these technologies offer hope for better, less disruptive care by identifying early signs of change and helping people living with SMA stay healthier longer.
The direction of future research
The MDA continues to be a driving force behind innovative SMA research, according to Lin. MDA supports studies into gene therapy, including trying to expand treatment options and deepen an understanding of SMA.
Though, Lin points out, research gaps remain.
“We still need a lot of data about how these drugs are affecting adults and older children,” he says. “We need more interventions that are more tailored to them, who have progressed a lot more or have gotten treatments a little bit later.”
Looking ahead, Lin remains optimistic. He believes advances in SMA research and treatment offer hope for new therapies and approaches that may further improve care in the years to come.
About the Author
