Evrysdi stabilized motor, breathing function in adults with SMA
Treatment with Evrysdi (risdiplam) generally stabilized motor and respiratory function for up to 2.5 years in adults with spinal muscular atrophy (SMA), according to a real-world study in Slovenia.
The study included 11 adults with SMA types 2, 3, and 4. “These results add to the limited database of risdiplam treatment outcomes in adults with SMA, support the continued use of risdiplam for adults with SMA, and may help patients and clinicians to understand and assess treatment options,” the researchers wrote.
The study, “Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study,” was published in BMC Neurology.
Evrysdi designed to boost SMN protein
SMA is chiefly caused by mutations in the SMN1 gene, resulting in a deficiency of the SMN protein. This leads to the gradual loss of motor neurons — the specialized nerve cells that control movement — and to symptoms such as muscle weakness and wasting, fatigue, and breathing difficulties.
Evrysdi is a disease-modifying therapy that increases production of functional SMN protein from a backup gene called SMN2, helping compensate for the loss of SMN1 function in people with SMA. While the treatment is approved to treat both children and adults with the disease, “real-world evidence of risdiplam treatment in adults with SMA is limited by both number of studies and patients, particularly in those [older than] 25 years, despite approximately one third of the SMA population being adults,” the researchers wrote.
To learn more, researchers in Slovenia analyzed data from patients treated with Evrysdi for up to 30 months (2.5 years) between May 2022 and April 2025, all of whom had not been treated with other disease-modifying therapies for SMA. The group included nine women and two men treated at a single center. At treatment initiation, their mean age was 51 years, with an age range of 27 to 82.
Regarding SMA types, eight patients had type 3, two had type 2, and one had type 4. Four patients had three copies of the SMN2 gene, four had four copies, and in three patients, the number of copies was unknown. Usually, the more SMN2 copies a person has, the less severe the disease is likely to be.
Nine participants were not able to walk and six did not require breathing support. Four needed noninvasive nighttime ventilation, whereas one required invasive ventilation.
Motor function stable for most patients
Functional outcomes were stable for most patients throughout follow-up. In particular, the Revised Upper Limb Module, which captures the functional abilities of the arms and hands, was stable in seven patients and worsened in four (a decline of at least 2 points; maximum score is 37).
“Natural history data show patients with SMA typically experience a mild but progressive decline in upper limb function over 24 months without treatment,” the team noted. “While there was no control group for direct comparisons and to allow specific assessment of treatment effect, this stabilization of motor function suggests a divergence from expected natural history.”
In addition, of the six patients who completed the Revised Hammersmith Scale of gross motor function, five had stable scores after 30 months.
According to the researchers, reports from other studies showed that patients value stability of motor function as an important treatment goal to maintain independence.
Respiratory function was also generally stable during follow-up, with no significant differences seen in several measures, such as forced vital capacity (the maximum amount of air exhaled after taking a deep breath), maximal inspiratory and expiratory pressure — assessments of respiratory muscle strength — and peak expiratory flow, a measure of how quickly a person can breathe out.
“The loss of respiratory function is reported as one of the most frequent concerns for adult patients with SMA, suggesting that maintenance of respiratory function over the length of this study is an important outcome for patients,” the team wrote.
“This real-world study suggests that motor and respiratory function, which are important treatment outcomes for this patient population, are generally stable over 30 months of treatment with risdiplam in adults aged 27-82 years with Types 2, 3, and 4 SMA,” the researchers concluded.
Adding to the lack of a control group, study limitations noted by the scientists included the small number of participants and the lack of systematically collected safety data.
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