Abstract Details

Title Clinical and Electrophysiological outcomes of Spinal Muscular Atrophy type 1 patients treated with Nusinersen.

Topic Child Neurology and Developmental Neurology

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-064

Objective Tracking the outcomes of SMA type 1 patients treated with Nusinersen before and after 1 year of age.

Background SMA type 1 patients have been treated with Nusinersen at our center since March 2017. This study is to demonstrate the outcomes and progress of the patients since initiation of the treatment.

Design/Methods Genetic confirmed SMA type 1 subjects were given intrathecal Nusinersen as per the standard protocol. Neurological examination, CHOP-INTEND scores, ulnar and median motor compound muscle action potential (CMAP) amplitudes were recorded at baseline and 12 months after starting treatment.

Results Data is being collected on 11 patients. Cohort A: seven patients (4 females, 3 males) started treatment with Nusinersen before 1 year of age (mean age 4.27 months, range 8 weeks-9 months). Cohort B: four (2 females, 2 males) patients began treatment after their first birthday (mean age 4.5 years, range 23 months-7 years). One subject in Cohort A passed due to respiratory complications. Cohort A, baseline CHOP-INTEND was 28.7 ± 10 (max score 64), baseline median motor amplitude was 0.64 ± 0.24 mV, and ulnar motor amplitude was 0.46 ± 0.27mV. Cohort B, baseline CHOP-INTEND was 16 ± 11.5, baseline median motor amplitude 0.98 ± 0.95 mV, and ulnar motor amplitude 0.5 ± 0.47mV. At 12 months follow-up Cohort A CHOP-INTEND results were available on 4 patients with mean score 43 ± 5.6, follow up CMAP available for 2 patients with median nerve motor amplitude 1.15 ± 0.35mV and ulnar motor amplitude 0.55 ± 0.07mV; cohort B follow up of 4 patients had mean CHOP-INTEND 14.75 ± 9, median nerve motor amplitude 0.68 ± 0.62mV, and ulnar motor amplitude 0.5 ± 0.32mV.

Conclusions This study highlight the difference in outcomes among SMA type 1 subjects started on Nusinersen before and after age 1 year. Early onset of treatment is advised.

Authors/Disclosures
Emily Kern-Smith, MD (Emory University) PRESENTER	No disclosure on file
Sumit Verma, MD (Emory Children's Center)	Dr. Verma has nothing to disclose.

��ɫ��

��ɫ��