Real-Life Outcome Data With Risdiplam for Spinal Muscular Atrophy скачать в хорошем качестве

Real-Life Outcome Data With Risdiplam for Spinal Muscular Atrophy

Revital Lavi, MD, Pediatric Neurologist at the Sourasky Medical Center, discusses real-life outcome data with risdiplam for spinal muscular atrophy (SMA). The data was recently presented at the Annual Conference of the World Muscle Society (WMS 2024) held in Prague, CZ. SMA is a group of genetic neuromuscular disorders due to mutations along the SMN1 gene. The net result is atrophy of motor neurons that causes progressive muscle weakness and loss of movement. SMA mainly affects the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses. SMA type 1, 2, 3, and 4 relate to the severity of the condition and are linked to genetic changes in the SMN1 gene as well as the number of copies of the nearby related gene, SMN2. There are other rarer types of SMA caused by changes in different genes. The goal of the real-life study by Dr. Lavy and colleagues was to examine clinical outcome data of patients with SMA treated with risdiplam. Risdiplam is a SMN2 splicing modifier that promotes the production of functional SMN protein. The study included 22 patients who received risdiplam between the ages of 5 months to 24 years of age. Eighteen of these patients had been previously treated with nusinersen and the remaining four were treatment naïve. In patients with SMA type 1, CHOP Infant Test of Neuromuscular Disorders (CHOP INTEND) scores were stable or slightly increased by a median of 0.5 points following treatment with risdiplam. In patients with SMA types 2 and 3, Hammersmith Functional Motor Scale Expanded (HFMSE) scores showed an increase by a median of 2 points with risdiplam. Additionally, no change in ventilatory status or bulbar function occurred. Five patients presented with mild adverse effects that were resolved within days. Overall, the treatment was well tolerated and illustrated stable or slightly improved motor function for the majority of patients.