Scholarlink

Introduction <p>Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by biallelic SMN1 variants, partially modulated by SMN2 copy number. Risdiplam, an oral SMN2 splicing modifier, has demonstrated efficacy in SMA. However, long-term adherence and persistence are key to sustaining benefit. We evaluated real-world adherence, persistence, and safety of risdiplam in a population-based cohort.</p> Methods <p>This was a retrospective observational study including all genetically confirmed SMA type 1–3 patients treated with risdiplam in Spain between January 2020 and October 2025. Adherence was assessed using the proportion of days covered (PDC) from pharmacy dispensing records and the Morisky–Green questionnaire. Persistence was defined as time to permanent discontinuation or switch. Adverse events (AEs) were extracted from clinical records, and Kaplan–Meier analysis was used to estimate persistence probabilities.</p> Results <p>Fifty-three patients were included (38 adults, 15 pediatric patients); 5.7% had SMA type 1, 52.8% type 2, and 41.5% type 3. One pediatric patient with SMA type 1 was presymptomatic at treatment initiation. Median age at risdiplam initiation was 29&#xa0;years (interquartile range [IQR] 17–42), and 35.8% had prior nusinersen exposure. Adherence was high: median PDC was 100% (IQR 100–100) at 12&#xa0;months and throughout follow-up; all patients assessed with the Morisky–Green questionnaire (35/53, 66%) were adherent. At 12&#xa0;months, 92.5% (49/53) remained on treatment (Kaplan–Meier estimate 94.3%; 95% CI 88.3–100.0). Persistence at 24 and 36&#xa0;months was 87.8% and 80.1%, respectively; later estimates should be interpreted cautiously because of the limited number of patients at risk. Median treatment duration was 28.1&#xa0;months. Nine patients (17.0%) discontinued treatment. Treatment-related AEs occurred in 4/53 patients (7.5%), including one pediatric case of leukocytoclastic vasculitis requiring permanent discontinuation.</p> Conclusions <p>In this real-world population-based cohort, risdiplam showed very high adherence, favorable short- to mid-term persistence, and a favorable safety profile, supporting the feasibility of oral therapy in both pediatric and adult patients with SMA.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Adherence, Persistence, and Safety of Risdiplam in Spinal Muscular Atrophy: A Population-Based Cohort Study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月6日

查看全文
  • Maria Chovi-Trull,
  • Nancy C. Ñungo-Garzón,
  • Karolina A. Aragon-Gawinska,
  • Inmaculada Pitarch-Castellano,
  • Asunción Albert-Marí,
  • Javier García-Pellicer,
  • José L. Poveda-Andrés,
  • María D. Edo-Solsona,
  • Juan F. Vázquez-Costa

摘要

Introduction

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by biallelic SMN1 variants, partially modulated by SMN2 copy number. Risdiplam, an oral SMN2 splicing modifier, has demonstrated efficacy in SMA. However, long-term adherence and persistence are key to sustaining benefit. We evaluated real-world adherence, persistence, and safety of risdiplam in a population-based cohort.

Methods

This was a retrospective observational study including all genetically confirmed SMA type 1–3 patients treated with risdiplam in Spain between January 2020 and October 2025. Adherence was assessed using the proportion of days covered (PDC) from pharmacy dispensing records and the Morisky–Green questionnaire. Persistence was defined as time to permanent discontinuation or switch. Adverse events (AEs) were extracted from clinical records, and Kaplan–Meier analysis was used to estimate persistence probabilities.

Results

Fifty-three patients were included (38 adults, 15 pediatric patients); 5.7% had SMA type 1, 52.8% type 2, and 41.5% type 3. One pediatric patient with SMA type 1 was presymptomatic at treatment initiation. Median age at risdiplam initiation was 29 years (interquartile range [IQR] 17–42), and 35.8% had prior nusinersen exposure. Adherence was high: median PDC was 100% (IQR 100–100) at 12 months and throughout follow-up; all patients assessed with the Morisky–Green questionnaire (35/53, 66%) were adherent. At 12 months, 92.5% (49/53) remained on treatment (Kaplan–Meier estimate 94.3%; 95% CI 88.3–100.0). Persistence at 24 and 36 months was 87.8% and 80.1%, respectively; later estimates should be interpreted cautiously because of the limited number of patients at risk. Median treatment duration was 28.1 months. Nine patients (17.0%) discontinued treatment. Treatment-related AEs occurred in 4/53 patients (7.5%), including one pediatric case of leukocytoclastic vasculitis requiring permanent discontinuation.

Conclusions

In this real-world population-based cohort, risdiplam showed very high adherence, favorable short- to mid-term persistence, and a favorable safety profile, supporting the feasibility of oral therapy in both pediatric and adult patients with SMA.