Risdiplam may yield some benefits in adult patients with severe spinal muscular atrophy (SMA) symptoms, according to a case study recently published in Neurological Sciences.
“Although our observation may suggest that advanced disease stage per se should not preclude clinicians from starting disease modifying treatments in adult type 2 SMA patients, further studies in this population are still needed,” the authors wrote.
This case report describes a 27-year-old woman previously diagnosed with SMA type 2 by genetic testing, which revealed a homozygous deletion of the SMN1 gene in exons 7 and 8. The patient presented with paresis and atrophy of the upper and lower limbs and the neck muscles.
She had decreased muscular strength of 2/5 points in all muscular groups except the shoulder abductors and distal lower limb muscles, which each had 0/5 points. The patient used a wheelchair and required permanent head and axial support, and she had received noninvasive ventilation support at night from the age of 18 years. She underwent scoliosis surgery at 12 years of age.
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Upon evaluation, the patient had scores of 0/66 on the Hammersmith Functional Motor Scale Expanded (HFMSE), 3/37 on the revised upper limb module (RULM), and 32.1/100 on the 32-item motor function measure (MFM32).
The healthcare team initiated treatment with risdiplam. At the 2-month follow-up, the patient reported some head control and improved overall head and axial muscle strength. Importantly, at the 12-month follow-up, she described a better quality of life, and all 3 SMA motor scales showcased higher scores. The HFMSE score increased by 3 points, the RULM increased by 2 points, and the MFM32 improved in the D2 and D3 domains by 18.9 and 4.8 points, respectively.
These findings suggest a marked benefit of risdiplam in adult patients with SMA besides just disease stabilization, which contrasts with the results of the SUNFISH study where the median age was 9 years, with the oldest participant being 25 years old.
“However, real world data are still needed, particularly regarding treatment of older SMA patients with risdiplam,” the authors noted.
Schön M, Domingues A, Moreno T, Oliveira Santos M. A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam. Neurol Sci. Published online December 6, 2022. doi:10.1007/s10072-022-06539-1