Evrysdi boosts motor function, quality of life in Asian SMA patients
Treatment with Evrysdi (risdiplam) improved motor function and quality of life in children and adults with spinal muscular atrophy (SMA), a real-world study in Hong Kong shows.
The findings, from 34 patients followed for up to three years, showed clinically meaningful gains in motor and upper-limb function, particularly in treatment-naïve patients, along with a generally favorable safety profile.
“This study fills Asian real-world data gaps, stresses the importance in monitoring in severe SMA, and underscores the need for larger, long-term safety and efficacy studies,” researchers wrote.
The study, “Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy,” was published in the European Journal of Neurology.
Evrysdi designed to increase SMN protein levels
In SMA, SMN1 gene mutations lead to a deficiency of the SMN protein, disrupting the function of motor neurons, the specialized nerve cells that control movement, and resulting in symptoms such as muscle weakness and wasting.
Evrysdi is designed to increase SMN protein levels, thereby preserving motor neuron health and helping maintain or improve muscle function in people with SMA. The therapy was shown to slow SMA progression in clinical trials, but real-world evidence of Evrysdi’s benefits in Asia is limited.
In this study, scientists reported outcomes for 24 adults and 10 children with SMA, who were recruited through the Hong Kong SMA Treatment Program between 2021 and 2025. They were treated with Evrysdi and followed for three years.
At the start of treatment, participants’ mean ages were 11.5 years for children and 30.2 years for adults. Diagnosis had been established at 1.6 and 4.6 years, respectively. About three-quarters had not been treated previously (treatment-naïve). The remaining nine patients switched from Spinraza (nusinersen), mostly due to issues with its administration procedure into the spinal canal.
Most participants had SMA type 2, while five had SMA type 1 and four had type 3. Almost all participants needed a wheelchair, and most children required breathing and feeding support. Around 40% underwent surgery for scoliosis, a sideways curvature of the spine.
Mean motor function scores improved significantly throughout study
Results showed that mean scores on the Motor Function Measure (MFM-32), a standardized measure of motor function, improved significantly throughout the study. Overall, 91% of adults and 80% of children experienced improvements or stabilization on the MFM-32. Clinically meaningful benefits on this scale were seen in 36% of adults and half of the children.
Improvements were also reported in the Revised Upper Limb Module, a tool for assessing arm and hand function, with seven adults and five children achieving clinically meaningful gains.
Scores on the Hammersmith Functional Motor Scale Expanded, which measures physical ability, also improved significantly after six to 12 months of treatment, but not thereafter. The team attributed this lack of improvement in later time points to the relatively small number of participants.
Overall results on the Adapted Test of Neuromuscular Disorders, a wheelchair-based functional motor assessment, improved from 1.5 years of treatment. Four patients, two adults and two children, experienced clinically meaningful benefits.
This study provides the first real-world data on the efficacy and safety of [Evrysdi] in pediatric and adult patients with SMA from Asia, corroborating the previous findings reported in studies from Europe and North America.
Children also reported gains in health-related quality of life at three years on Evrysdi, particularly in the communication domain of the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Gains were also noted earlier in the course of treatment in the physical domain and the total score of a parent-reported health-related quality of life assessment.
Treatment was generally well tolerated in both children and adults, with 50% of adults and 10% of children developing adverse events. The most common side effects in this study were diarrhea, skin rash, acne, and hair loss. Two adults discontinued treatment due to adverse effects, one permanently due to severe diarrhea and the other for five months due to insomnia and acne.
During treatment, two adults with SMA type 2 died due to pneumonia and cardiac arrest. One adult required invasive ventilation due to a lung infection with respiratory failure. Conversely, one child was able to fully resume oral feeding after starting Evrysdi.
“This study provides the first real-world data on the efficacy and safety of [Evrysdi] in pediatric and adult patients with SMA from Asia, corroborating the previous findings reported in studies from Europe and North America,” the researchers wrote. The study’s findings “confirm that [Evrysdi] is safe in patients with severe symptomatic SMA, demonstrating disease stabilization in patients switching therapies, as well as meaningful motor gains in treatment-naïve individuals.”
The post Evrysdi boosts motor function, quality of life in Asian SMA patients appeared first on SMA News Today.
