Children with spinal muscular atrophy (SMA) who need ventilatory support will usually need the same level of support before and after gene-based treatment, a new study published in Children found. This is the case whether they are receiving respiratory support noninvasively or via a tracheostomy. 

To assess whether novel treatments such as gene-based therapies like nusinersen (Spinraza®) would reduce the ventilatory support needs of patients with SMA in real-world studies, a team of researchers led by Athanasios G. Kaditis, MD, from the Division of Pediatric Pulmonology and Sleep Disorders Laboratory, First Department of Pediatrics, Agia Sofia Children’s Hospital, Medical School, National and Kapodistrian University of Athens in Greece conducted a literature review of 14 studies.

Of 172 SMA patients on ventilatory support receiving nusinersen, the researchers reported that only 13 (7.5%) had reduced needs for ventilatory support and only 1 (0.6%) did not require ventilation following treatment. The majority of patients (70.9%) stayed on the same ventilator settings.


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Two of the 41 children who were offered gene therapy (4.9%) no longer required ventilatory support, while 12 had reduced ventilatory needs.

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“In conclusion, available evidence suggests that among children with SMA, who are on mechanical respiratory support either noninvasively or via tracheostomy at the time of gene-based treatment, only a few will be weaned off the ventilator or have reduced ventilator needs per 24 h,” the researchers wrote.

Respiratory disease is common among children with SMA due to weakness in the muscles used for breathing. These children usually need ventilatory support, especially in more severe cases.

Nusinersen is an antisense oligonucleotide developed for the treatment of children and adults with SMA. It binds to the SMN2 gene and increases the inclusion of exon 7 in the mature SMN2 messenger RNA, resulting in the production of more functional SMN protein.

Reference

Panagiotou P, Kanaka-Gantenbein C, Kaditis AG. Changes in ventilatory support requirements of spinal muscular atrophy (SMA) patients post gene-based therapies. Children (Basel). 2022;9(8):1207. doi:10.3390/children9081207