Risdiplam for the Treatment of Adults with Spinal Muscular Atrophy: Experience of the Northern Ireland Neuromuscular Service

Introduction/Aims
Risdiplam is the newest available treatment for patients with spinal muscular atrophy (SMA). There
is little information on its use in adults. We present the clinical experience of adults with SMA
treated with risdiplam through the Early Access to Medicines Scheme (EAMS) in Northern Ireland.
Methods
All adults with type 2 SMA attending the regional neuromuscular clinic were offered risdiplam
treatment. Patients had assessments of respiratory function, the Epworth Sleepiness Scale (ESS),
Quality of Life Measure for People with Slowly Progressive and Genetic Neuromuscular Disease
(QOLM) and Egen Klassifikation 2 (EK2) every 3 months and the Revised Upper Limb Module for
SMA (RULM) at baseline and 6 months. All assessments other than the RULM were carried out
virtually.
Results
Six of seven patients who were offered risdiplam consented to treatment through the EAMS (5
female, 1 male, mean age 33.7 yrs). It was generally well tolerated other than skin photosensitivity in
all patients. All patients remained on therapy at 9 months. All reported meaningful improvements in
overall strength, sense of wellbeing and speech quality. There was no change in respiratory function,
daytime hypersomnolence, or upper limb function (all p > 0.05).There was improvement in the
QOLM (p=0.027) and EK2 (p=0.009).
Discussion
Our study raises hopes that risdiplam may be efficacious in adults; however, more systematic studies
in larger cohorts are needed before drawing any definitive conclusions. This study also
demonstrated the feasibility of virtual assessments.