Nusinersen: Evidence of sustained clinical improvement and lessened fatigue in older ambulatory patients with spinal muscular atrophy

McMillan, Hugh J.

doi:10.1002/mus.26735

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…Nusinersen, an antisense oligonucleotide targeting pre-mRNA splicing of the SMN2 gene, was approved by the United States Food and Drug Administration (FDA) and the European Medical Agency (EMA) in 2016 and 2017, respectively, and is one of the three currently approved DMTs for SMA [ 5 , 6 ]. Large real-world data collections have since then provided additional evidence of efficacy in a broad range of patients [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 ]. The vast majority of these controlled and real-world studies were based on the use of well-validated scales, such as the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Infant Neurological Examination— Section 2 (HINE-2) in type I SMA, and Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Motor Function Measure 32 (MFM32) in type II SMA [ 13 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Lilien,

Vrscaj,

Thapaliya

et al. 2024

JCM

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Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA.

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Section: Introductionmentioning

confidence: 99%

Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Lilien,

Vrscaj,

Thapaliya

et al. 2024

JCM

View full text Add to dashboard Cite

show abstract

“…Nusinersen, an antisense oligonucleotide targeting pre-mRNA splicing of the SMN2 gene was approved by the United States Food and Drug Administration (FDA) and the European Medical Agency (EMA) in 2016 and 2017, respectively, and is one of the three currently approved DMT for SMA [6,7]. Large real-world data collections have since then provided additional evidence of efficacy in a broad range of patients [8][9][10][11][12][13][14][15]. The vast majority of these controlled and realworld studies were based on the use of well-validated scales such as Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Infant Neurological Examination -Section 2 (HINE-2) in type I SMA, and Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and Motor Function Measure 32 (MFM32) in type II SMA [14,16].…”

Section: Introductionmentioning

confidence: 99%

Patients’ Perceptions of Nusinersen Effects according to Their Responder Status

Lilien,

Vrscaj,

Thapaliya

et al. 2024

Preprint

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Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a dis-ease-modifying therapy (DMT) are often classified as responders or non-responders based on at-tainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatment benefit by patients considered as responder or non-responder. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I-III patients with a median age of 11.2 (0.39-57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e. those exhibiting clinically significant improvement (N=41), those with non-clinically significant improvement (N=18), or those show-ing no improvement (N=40). Fifteen months after treatment initiation patients or patients’ care-givers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in patient perception of treatment benefit in 17 out of 22 domains across patient groups. Conclusion: Our results suggest that functional motor scales do not recapitulate patients and pa-tients’ caregivers experience about the effect of nusinersen treatment in SMA.

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