Abstract Details

Title Case Series: Spinal Muscular Atrophy Patients’ Response to Nusinersen in a Caribbean Cohort

Topic Child Neurology and Developmental Neurology

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

Poster/Presentation
Number 7-065

Objective To describe the response rate of motor function in Caribbean patients of SMA who had completed induction phase with Nusinersen.

Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder with degeneration of alpha motor neurons leading to progressive muscular weakness and atrophy. The clinical phenotype is classified into severe to mild with regards to the age of onset and achieved motor abilities. SMA is caused by deletions or loss of function mutations in the survival motor neuron (SMN1) gene on chromosome 5q13. Humans possess a homologue SMN2 gene copy that undergoes an alternative splicing process, resulting in a small amount of full length SMN protein. Nusinersen is a novel treatment approved in 2016 by the FDA that modifies pre-messenger RNA splicing of SMN2 gene and thus promotes increased production of full length SMN protein. Studies have showed that children with early and late onset SMA who received Nusinersen had significant improvement in motor function compared with those in the control group. There is lack of evidence of response rate and ethnicity background.

Design/Methods Describe a cohort of 4 caribbean patients using the CHOP-INTEND test with a genetically proved diagnosis of SMA (early and late onset) after completion of induction phase.

Results

Retrospective review of patients with SMA on Nusinersen treatment (n=4). The mean age of the patients was 38 months old (8-69mo). Fifty percent were early onset SMA and all of them were dependent of mechanical ventilation. A comparison was done among baseline scores and post induction scores. All patients showed improvement in motor scores from baseline with a mean change +5.6 points (2-10.5). All parents reported improvement on activities of daily living.

Conclusions All patients that completed induction phase of Nusinersen improved motor function score and per parent report system there was an improved in some of the activities of daily living.

Authors/Disclosures
PRESENTER	No disclosure on file
Mayela Marie Diaz Diaz, MD	No disclosure on file
Janice Rodriguez Hernandez, MD (University of Puerto Rico, Child Neurology)	No disclosure on file
Marisel Vazquez, MD (San Jorge Medical Building)	Dr. Vazquez has nothing to disclose.
Jessica Gonzalez Montes, MD	No disclosure on file
Jocelyn Montalvo, MD	Dr. Montalvo has nothing to disclose.
Mireya M. Bolo-Diaz, MD (Centro Pediatrico de Corozal)	No disclosure on file

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