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Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies
Brenda Klemm Arci Mattos de Freitas Alves1, Alexandra Prufer de Queiroz Campos Araujo2, Flávia Nardes Dos Santos2
1Universidade Federal do Rio de Janeiro, Pós-graduação em Saúde Materno-infantil, Rio de Janeiro RJ, Brazil.
Insights
Disease-modifying therapies for Spinal Muscular Atrophy (SMA) type 1 show improved motor function and stabilized respiratory/bulbar function. Earlier treatment initiation may lead to better outcomes in pediatric patients with SMA.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA-5q) is a progressive neurodegenerative disease affecting motor neurons.
- SMA type 1 presents within the first six months of life, characterized by muscle atrophy, hypotonia, and weakness.
- Approved disease-modifying therapies offer better outcomes with earlier intervention.
Purpose of the Study:
- To evaluate the safety and clinical efficacy of disease-modifying therapies for SMA type 1.
- To compare outcomes in patients treated exclusively with nusinersen versus those transitioning to onasemnogene abeparvovec (OA).
- To assess effects on motor, respiratory, and bulbar function.
Main Methods:
- A cohort of ten SMA type 1 patients was divided into two groups over 18 months.
- Group 1 received nusinersen exclusively; Group 2 transitioned from nusinersen to OA.
- Assessments included the CHOP-INTEND scale, developmental milestones, ventilation needs, and swallowing function.
Main Results:
- 70% of patients achieved motor milestones; Group 2 showed a greater CHOP-INTEND score increase (33 points) vs. Group 1 (10.2 points).
- 90% of patients maintained stable respiratory function; 30% achieved oral feeding.
- No serious adverse events or deaths were reported.
Conclusions:
- Both treatment strategies demonstrated improvements in motor function and stabilization of respiratory and bulbar functions.
- Earlier initiation of disease-modifying therapies, particularly OA, may correlate with enhanced motor gains.
- The study provides real-world data on the safety and efficacy of SMA treatments in pediatric patients.
Background:
Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have been approved, with better outcomes with earlier treatment.
Objective:
To describe the safety and clinical efficacy of disease-modifying therapies based on SMN1 and SMN2 gene strategies concerning motor, respiratory, and bulbar function. Patients with SMA 1 were divided into 2 groups: those exclusively on nusinersen (group 1) and those transitioning to onasemnogene abeparvovec (OA) (group 2).
Methods:
Over 18 months, patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scale, developmental milestones, ventilation needs and duration, nutritional support needs, consistency of food, and signs of dysphagia. There were ten patients, divided between the groups; in group 1, the average age for starting nusinersen was 53.6 (12-115) months, and, in group 2, the age was 7 (1-12) months for nusinersen and 15.2 (10-19) months for OA.
Results:
Our results indicate that 70% of patients reached some motor milestones, with group 1 increasing by 10.2 points on the CHOP-INTEND scale, while group 2 increased by 33 points. Additionally, 90% of the patients experienced no respiratory decline, and 30% maintained oral feeding. No serious adverse effects or deaths were recorded.
Conclusion:
Both groups showed improvement in motor function and stabilization of respiratory and bulbar function, with the difference between the groups possibly being related to the earlier treatment initiation. Thus, the present study provides valuable insights into the real-world safety and clinical efficacy of disease-modifying therapies for SMA 1 patients.
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