Clinical experience of treating 28 patients with Duchenne muscular dystrophy with the exon 45 skipping drug casimersen

Abstract

Background. Duchenne muscular dystrophy (DMD) is an irreversible, progressive fatal genetic disorder caused by the absence of functional dystrophin protein in muscle due to mutations in the DMD gene. Exon-skipping therapy for DMD aims to increase the amount of functionally active protein dystrophin. Casimersen, a drug for skipping exon 45, is indicated for patients with certain deletions. Clinical studies have confirmed an increase in dystrophin levels and improved motor activity in patients with DMD treated with casimersen. Aim. To present the experience of treating patients with DMD who were eligible for exon 45 skipping therapy. Materials and methods. Twenty-eight patients with DMD who received exon 45 skipping therapy were observed. Patients were assessed for functional status, motor tests (Six-Minute Walk Test, North Star Ambulatory Assessment) dynamics, and respiratory function with dynamic assessment of functional vital capacity. Results. Most outpatients showed stabilization of their condition with preservation of the ability to move independently, improvement or stability in functional (Six-Minute Walk Test, North Star Ambulatory Assessment) and timed test indicators, as well as stabilization of upper limb function and absence of progression of respiratory function decline in non-ambulatory patients. Conclusion. The safety and tolerability of casimersen therapy were generally good in all patients with DMD in our sample. All patients who initiated casimersen therapy in the early outpatient stage remained in this stage at the analysis date.