The first patients receiving gene-replacement therapy in Slovenia; two children with spinal muscular atrophy treated with omnasemnogene abeparvovek

Abstract

Spinal muscular atrophy (SMA) is a rare genetic disease that affects the motor neurons and leads to muscle wasting and deterioration of the patient’s general condition. Until recently, there were no causal treatment options for patients with SMA; they were completely dependent on supportive care and the maintenance of vital functions. Today, three treatment options are available: nusinersen, risdiplam, and gene replacement therapy with onasemnogene abeparvovec. Gene replacement therapy with onasemnogene abeparvovec (Zolgensma®) represents a new milestone in the treatment of SMA. In this article, we present the first two SMA patients treated with gene replacement therapy in Slovenia. These two cases are also the first cases of gene replacement therapy for any disease in Slovenia. These two cases mark the pioneering applications of gene replacement therapy in treating diseases within the national context. They serve as pivotal demonstrations affirming the feasibility of safely and efficaciously administering advanced therapies to patients in Slovenia. Such achievements underscore the importance of a multidisciplinary team’s ability to detect and treat potential treatment-associated complications.