Sequential treatment with nusinersen, Zolgensma® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report.

ABSTRACT

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 and two copies of SMN2 was started on treatment with nusinersen resulting in significant improvement in her motor and respiratory function. However, after six doses, treatment was changed to Zolgensma® due to caregiver's decision. In the months following the administration, the patient showed significant clinical improvement in motor performance. After 12 months, the child started therapy with risdiplam in another country. One year after the start of therapy with risdiplam further improvements in both motor and bulbar functions were highlighted. This case report raises a question is a multiple consecutive theraphy more effective than monotherapy in SMA treatment? These results suggest the need to further explore the potential efficacy of a multidrug treatment.