Division of Pediatric Neurology, Department of Neurology, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA.
Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Ann Clin Transl Neurol. 2022 Jun;9(6):810-818. doi: 10.1002/acn3.51560. Epub 2022 May 14.
The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options access to risdiplam prior to commercial availability. The program was designed to collect safety data during risdiplam treatment.
Patients were enrolled from 23 non-preselected sites across 17 states and treated with risdiplam orally once daily. Eligible patients had a 5q autosomal recessive Type 1 or 2 SMA diagnosis, were aged ≥2 months at enrollment, and were ineligible for available and approved SMA treatments or could not continue treatment due to a medical condition, lack/loss of efficacy, or the COVID-19 pandemic.
Overall, 155 patients with Type 1 (n = 73; 47.1%) or 2 SMA (n = 82; 52.9%) were enrolled and 149 patients (96.1%) completed the EAP (defined as obtaining access to commercial risdiplam, if desired). The median treatment duration was 4.8 months (range, 0.3-9.2 months). The median patient age was 11 years (range, 0-50 years), and most patients (n = 121; 78%) were previously treated with a disease-modifying therapy. The most frequently reported adverse events were diarrhea (n = 10; 6.5%), pyrexia (n = 7; 4.5%), and upper respiratory tract infection (n = 5; 3.2%). The most frequently reported serious adverse event was pneumonia (n = 3; 1.9%). No deaths were reported.
In the EAP, the safety profile of risdiplam was similar to what was reported in pivotal risdiplam clinical trials. These safety data provide further support for the use of risdiplam in the treatment of adult and pediatric patients with SMA.
美国 risdiplam 扩大准入计划（EAP；NCT04256265）开放，旨在为没有满意治疗选择的 1 型或 2 型脊髓性肌萎缩症（SMA）患者在 risdiplam 商业上市前获得 risdiplam 治疗。该计划旨在 risdiplam 治疗期间收集安全性数据。
从 17 个州的 23 个非预选地点招募患者，每日口服 risdiplam 一次。符合条件的患者诊断为 5q 常染色体隐性 1 型或 2 型 SMA，入组时年龄≥2 个月，不符合现有和批准的 SMA 治疗标准，或因医疗状况、缺乏/丧失疗效或 COVID-19 大流行而无法继续治疗。
总体而言，155 例 1 型（n=73；47.1%）或 2 型 SMA 患者（n=82；52.9%）入组，149 例患者（96.1%）完成 EAP（定义为如果需要，获得商业 risdiplam 的准入）。中位治疗持续时间为 4.8 个月（范围：0.3-9.2 个月）。中位患者年龄为 11 岁（范围：0-50 岁），大多数患者（n=121；78%）之前接受过疾病修正治疗。最常报告的不良事件是腹泻（n=10；6.5%）、发热（n=7；4.5%）和上呼吸道感染（n=5；3.2%）。最常报告的严重不良事件是肺炎（n=3；1.9%）。无死亡报告。
在 EAP 中，risdiplam 的安全性与关键性 risdiplam 临床试验报告的安全性相似。这些安全性数据进一步支持 risdiplam 用于治疗成人和儿科 SMA 患者。
