Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by mutations in the dystrophin gene. Approximately 10-15% of cases result from nonsense mutations (nmDMD), which ataluren targets to restore functional dystrophin. This review provides clinical guidelines for ataluren use and proposes an implementation model in Sweden.

Methodology

The study conducted a targeted review of literature (1995-2018), including clinical trials, guidelines, and expert commentaries on nmDMD and ataluren. The focus was on treatment initiation, monitoring, and discontinuation criteria.

Clinical Outcomes

Ataluren has shown efficacy in delaying muscle degeneration, preserving ambulation, and improving pulmonary function in ambulatory nmDMD patients. Treatment is recommended from early diagnosis (ages 3-5) and continued until key milestones, such as reduced pulmonary capacity or significant loss of upper limb function.

Proposed Implementation in Sweden

The study suggests a centralized expert committee to ensure equitable access, proper monitoring, and optimal use of ataluren in Sweden. Multidisciplinary teams would oversee patient care and provide additional clinical evaluations.

Economic and Policy Challenges

High costs and variations in reimbursement policies across countries complicate ataluren's adoption. Comprehensive economic evaluations must consider caregiver burdens and societal impacts.

Conclusion

These recommendations aim to enhance access to ataluren and similar treatments in Sweden, ensuring better outcomes for patients with rare neuromuscular diseases.