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J Pediatr. 2020 Feb 5. pii: S0022-3476(19)31726-3. doi: 10.1016/j.jpeds.2019.12.047. [Epub ahead of print]

Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen.

Author information

1
The NEMO Clinical Center in Milan, Milan, Italy; Neurorehabilitation Unit, University of Milan, Milan, Italy. Electronic address: valeria.sansone@unimi.it.
2
The NEMO Clinical Center in Milan, Milan, Italy.
3
The NEMO Clinical Center in Rome, Rome, Italy.
4
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
5
Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.
6
Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
7
The NEMO Clinical Center in Messina (NEMO Sud), Messina, Italy; Department of Neuroscience, University Policlinico Messina, Messina, Italy.
8
Department of Child Neurology, University Policlinico Gemelli, Rome, Italy.
9
The NEMO Clinical Center in Messina (NEMO Sud), Messina, Italy.
10
Department of Neuroscience, University Policlinico Messina, Messina, Italy.

Abstract

OBJECTIVE:

To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy.

STUDY DESIGN:

Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscular atrophy and differing pulmonary requirements and conducted a semistructured qualitative interview among a subsample of caregivers at baseline, 6 months, and 10 months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry.

RESULTS:

Most patients in our cohort remained stable (84/109 = 77%). More than 80% of the children treated before age 2 years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) ≥16 hours. In those less than 2 years old, only 3 patients shifted from NIV ≤10 hours to NIV >10 hours, and the other 3 reduced the hours of NIV required. Most of the older patients remained stable; this included not only those on tracheostomy or NIV >10 hours but also 75% of those on NIV ≤10 hours.

CONCLUSIONS:

Our results suggest that nusinersen may produce some improvement in the progression of respiratory impairment, both in terms of survival and need for respiratory support ≥16 hours, especially before the age of 2 years.

KEYWORDS:

SMA1; nusinersen; respiratory function; ventilation

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