Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Author:

Yasar Niyazi Erdem1,Ozdemir Guzelali2,Uzun Ata Elif3,Ayvali Mustafa Okan4,Ata Naim4,Ulgu Mahir4,Dumlupınar Ebru5,Birinci Suayip6,Bingol Izzet7,Bekmez Senol1

Affiliation:

1. Division of Pediatric Orthopaedic Surgery, Ankara Bilkent Children’s Hospital, Ankara, Turkey

2. Department of Orthopaedics and Traumatology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey

3. Department of Radiology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey

4. Ministry of Health, General Directorate of Health Information Systems, Ankara, Turkey

5. Department of Biostatistics, Faculty of Medicine, University of Ankara, Ankara, Turkey

6. Ministry of Health, Ankara, Turkey

7. Department of Orthopedics and Traumatology, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey

Abstract

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear. Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children’s of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation. Results: Mean age was 3.7 ± 1.1 (range, 2–6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4–19). There was a significant correlation between Children’s of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration ( r = 0.539, p = 0.05). The correlation between Children’s of Philadelphia Infant Test of Neuromuscular Disorders score and patient age ( r = 0.361) or the time of first nusinersen dose ( r = 0.39) was not significant ( p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children’s of Philadelphia Infant Test of Neuromuscular Disorders scores. Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

Publisher

SAGE Publications

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