Case Report Highlights Utility of Nusinersen in Older Children With SMA Type 1

A late start to treatment with nusinersen can still yield improvements in spinal muscular atrophy (SMA), suggest insights from a case report, which show that the treatment improved respiratory and motor function while having a positive impact on quality of life.

The Chinese report detailed the case of a 6-year-old female patient with SMA type 1 who was successfully weaned off prolonged invasive ventilation after beginning treatment with nusinersen. The findings, suggest the researchers, show that nusinersen can reap benefits for older patients with the disease.

“The administration of nusinersen in the early stage is recommended to symptomatic and presymptomatic children, especially infants younger than 2 years,” described the researchers in Frontiers in Pediatrics. “However, the benefits of pulmonary rehabilitation remain unclear in old patients or those with severe neuromuscular and pulmonary diseases who are medicated with disease-modifying drugs. Nusinersen is validated to improve the motor function of SMA patients, but its pharmacological effect on respiratory function varies.”

The patient began treatment with nusinersen at the age of 5 years. Having received her SMA at age 7 months, the patient experienced pneumonia up to twice a year before the age of 4, at which time she was admitted twice to the intensive care unit for cough and dyspnea where she received tracheal intubation and mechanical ventilation. Following a second hospitalization, the patient began nusinersen treatment.

Over the course of a year, the patient received 6 loading doses of the treatment, resulting in an 11-point increase in the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders score and the ability to move her limbs against gravity, eat food orally, and partially speak.

Three months following the sixth dose of nusinersen, her care team began to be wean her off of invasive ventilation. Prior to nasotracheal intubation, the patient’s parents refused tracheotomy.

“Tracheostomy has many advantages, including avoidance of oropharyngeal injury, less exposure to sedatives, more comforts, preservation of swallowing and glottic function, safe re-intubation, and easier weaning from mechanical ventilation,” explained the researchers. “However, it is rejected by most Chinese parents. Tracheotomy for airway management is still recommended in the future for children with long-term mechanical ventilation.”

The patient had been on tracheal intubation for 2 years when she began to wean off. Noninvasive ventilation with a nasal mask replaced intubation, which started at 24 hours per day before being progressively reduced to 15 hours. At the time of publication, the patient was on noninvasive ventilation during the daytime with oxygen saturation above 95% and no signs of dyspnea.

Reference

Pan M, Shi J, Miao H, Zhang Q. Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: a case report. Front Pediatr. Published online February 15, 2023. doi:10.3389/fped.2023.1097063