Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Figures

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  FIGURE 1. Weight‐for‐age z‐score and clinical course. The weight‐for‐age z‐score is presented in relation to the time of gene therapy, the start of add‐on therapy with risdiplam, and important clinical events such as orthopedic surgery, the placement of a gastrostomy, the start of ventilation, and tracheostomy. Abbreviations: dNIV: Diurnal noninvasive ventilation; GFSS: Growth‐friendly spinal surgery; nNIV: Nocturnal noninvasive ventilation; NIV: Noninvasive ventilation; PEG: Percutaneous endoscopic gastrostomy; OA: Onasemnogene abeparvovec.

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  FIGURE 2. Functional scores and clinical course. The functional scores CHOP‐INTEND, HFMSE, RULM, and HINE‐2 are presented in relation to the time of gene therapy, the start of add‐on therapy with risdiplam, and important clinical events such as orthopedic surgery, the placement of a gastrostomy, the start of ventilation, and tracheostomy. In the natural course, the CHOP‐INTEND score declines by 1.71 points per month in SMA patients with 2 SMN2 copies and neonatal onset [18]. Abbreviations: CHOP‐INTEND: Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders; dNIV: Diurnal noninvasive ventilation; GFSS: Growth‐friendly spinal surgery; HFMSE: Hammersmith Functional Motor Scale Expanded; HINE‐2: Hammersmith Infant Neurological Examination part 2; nNIV: Nocturnal noninvasive ventilation; NIV: Noninvasive ventilation; OA: Onasemnogene abeparvovec; PEG: Percutaneous endoscopic gastrostomy; RULM: Revised Upper Limb Module.

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  FIGURE 3. Patient‐reported outcome measures (PROMs) and clinical course in patient 1. General (a), motor (b), and respiratory (c) PROMs as reported by parents are presented in relation to the time of gene therapy, the start of add‐on therapy with risdiplam and orthopedic surgery. Each time point reflects the perceived change compared to 3 months before. Abbreviations: GFSS; Growth‐friendly spinal surgery; OA, Onasemnogene abeparvovec.