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<p>Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up. We collected data of 59 adults with genetically confirmed 5q-SMA treated with risdiplam and analysed RULM, HFMSE, FVC % predicted, and ventilation status at baseline and at Month 6, 12, 24, and up to 36. The cohort comprised 59 adults (median age 28.5 years, range 17.0–59.2; 57.6% type 2, 33.9% type 3, and 8.5% type 1; 90.6% wheelchair users). During the follow-up period no patient lost motor function. RULM improved during the first 6 months and remained stable through 24–36 months. Over the follow-up, HFMSE showed a non-significant mean monthly increase of 0.05 points (<i>P</i> = 0.222), and RULM increased by 0.02 points per month (<i>P</i> = 0.079). No patient initiated ventilation during follow-up and forced vital capacity remained stable. In our adult population, including Type 1 survivors, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3&#xa0;years, and a favourable respiratory trajectory without ventilation. Our findings indicate that stabilisation is a clinically meaningful target in advanced adult SMA patients.</p>

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A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月6日

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  • Olesja Parmova,
  • Krystof Prasil,
  • Lenka Mokra,
  • Michal Svoboda,
  • Petr Ridzon,
  • Jana Junkerova,
  • Lucia Bakosova,
  • Katarina Okalova,
  • Lenka Jurikova,
  • Miriam Kolnikova,
  • Jana Haberlova

摘要

Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up. We collected data of 59 adults with genetically confirmed 5q-SMA treated with risdiplam and analysed RULM, HFMSE, FVC % predicted, and ventilation status at baseline and at Month 6, 12, 24, and up to 36. The cohort comprised 59 adults (median age 28.5 years, range 17.0–59.2; 57.6% type 2, 33.9% type 3, and 8.5% type 1; 90.6% wheelchair users). During the follow-up period no patient lost motor function. RULM improved during the first 6 months and remained stable through 24–36 months. Over the follow-up, HFMSE showed a non-significant mean monthly increase of 0.05 points (P = 0.222), and RULM increased by 0.02 points per month (P = 0.079). No patient initiated ventilation during follow-up and forced vital capacity remained stable. In our adult population, including Type 1 survivors, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3 years, and a favourable respiratory trajectory without ventilation. Our findings indicate that stabilisation is a clinically meaningful target in advanced adult SMA patients.