Real-world pharmacoclinical implementation of risdiplam under a national SMA protocol: A hospital pharmacy...

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder treated with disease-modifying therapies such as risdiplam. In Spain, its use is regulated by a national pharmacoclinical protocol that requires structured monitoring.

To evaluate real-world use, protocol adherence and registry completeness of risdiplam in routine clinical practice.

A retrospective registry-based case series was conducted including patients with spinal muscular atrophy treated with risdiplam.Variables included age, SMA subtype, SMN2 copy number, diagnostic confirmation, treatment sequence and persistence. Protocol adherence was assessed according to national criteria.

Ten patients were included in the study. SMA types II and III predominated, with one presymptomatic case. SMN2 copy number ranged from three to four in documented cases. Protocol adherence was confirmed in 70% of patients, while 30% lacked key eligibility variables. No off-protocol prescribing was identified. Treatment persistence was 100% and 60% of patients had previously received nusinersen.

Risdiplam was used appropriately in accordance with protocol criteria. Registry incompleteness, rather than clinical deviation, was the main limitation and standardized data capture is essential for real-world evaluation.