Abstract Details

Title Nusinersen Treatment in Spinal Muscular Atrophy Type 3: Real-life Experience from a Single Center in Türkiye

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 11-017

Objective To analyze the effect of nusinersen in spinal muscular atrophy type 3 with different outcome measures.

Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene. Nusinersen is the first approved disease-modifying therapy in SMA.

Design/Methods

We evaluated the clinical features and treatment responses of 65 patients. Hammersmith Functional Motor Scale Expanded (HMFSE) change was measured during baseline after the fourth and seventh visits. Six-minute walk test, knee flexion, and extension strength with a dynamometer, were evaluated in 28 ambulatory patients. Pulmonary function tests were measured in 40 patients. Doses were administered according to the CHERISH Trial protocol.

Results Forty-three patients completed the first seven doses of nusinersen. The mean age at the baseline of all cohorts was 28.43±10.32 (between 13 and 56 years), and 35 patients were female. Lumbar puncture was performed with X-ray or computerized tomography (CT) guidance in seven patients due to scoliosis. The mean HMFSE score was significantly increased after the fourth and seventh dose p<0.001 and p<0.001, respectively). In 28 patients, a significant increase in step count in the 6-minute walk test was identified after the fourth dose compared to baseline (p<0,05) and remained elevated after the seventh dose. Similar results were observed in knee flexion and extension strength between baseline and after the fourth dose. Pulmonary function tests remained unchanged at each time point.

Conclusions Our study provides data from one of the largest SMA type 3 cohorts from a single center treated with nusinersen. Functional improvement in different parameters shows that nusinersen is effective, in line with previous studies.

Authors/Disclosures
Arman Cakar (Istanbul Üni. Çapa) PRESENTER	No disclosure on file
Sezan Mergen Kiliç, PT (I.Ü Istanbul Tip Fakültesi)	Mrs. Mergen KILIÇ has nothing to disclose.
Hacer Durmus, MD (Department of Neurology, Istanbul Faculty of Medicine)	Dr. Durmus has nothing to disclose.
Fatma Yesim Parman, MD (Istanbul Üniversitesi Tip Fakültesi)	Dr. Parman has nothing to disclose.

��ɫ��

��ɫ��