Effect of medications in Paediatric spinal muscular atrophy Type 1

Abstract

Introduction/Aim: Disease modifying agents are widely available for treatment of Paediatric Spinal Muscular Atrophy (SMA) Types 1-3. Only short-term outcomes of nusinersen on sleep disordered breathing (SDB) has been described. Aim was to describe effect of nusinersen (Spiranza®) or combination nusinersen/onasemnogene abeparvovec (Zolegensma®) on SDB. Methods: A prospective observational study involving all children aged 0-18 years with SMA Type 1 treated with a disease modifying medication in Queensland, June 2018- December 2021 was undertaken. All children had a full level 1 diagnostic polysomnography (PSG) prior to any medication commencement followed by yearly PSG. PSG was also done prior to and 3 months following medication changes. Peripheral muscle function testing was done by a neurophysiotherapist. PSG were scored according to the American Academy of Sleep Medicine criteria (version 2.6) by a single paediatric sleep physician. Results: A total of eight children were enrolled, four children treated with nusinersen, and four who had combination treatment of nusinersen/onasemnogene abeparvovec. All patients had improvement in peripheral muscle function. Patient 5, 6 7 had no respiratory deterioration related hospital admissions, remainder had admissions ranging 21- 65 days. 6/8 children commenced on NIV after initial PSG. Patient 3 was using NIV prior to treatment, and Patient 5 did not require NIV. Patient 3 and 7 had ceased NIV at 8.1 and 1.3 years of age respectively. Figure 1 represents the total Apnoea-Hypnoea Indices of each patient. Conclusion: Disease modifying agents have varied effect on total AHI. Larger multicentre studies with longer follow-up are required to further characterize. (Figure Presented).L6377947482022-04-25 <br />