Aim: Ataluren has been approved for treating nonsense mutation Duchenne muscular dystrophy (nmDMD), and there are currently discussions concerning drug access and applications beyond the development programme. This study provides an overview of nmDMD and ataluren, stipulates clinical rules for treatment initiation and discontinuation and proposes a model for the implementation of orphan drugs in clinical practice in Sweden.
Methods: This was a targeted mini-review of the literature from 1995 to 2018, which included cohort studies, guidelines, randomised clinical trials, clinical commentaries and reviews. The review covered the pathophysiology, epidemiology and burden of nmDMD and the clinical programme for ataluren.
Results: Based on the current evidence, and our experiences, we recommend that patients with nmDMD should be given ataluren as soon as possible after diagnosis and this treatment should continue until they reach a forced vital capacity of <30%, and, or, a score of at least six on the Brooke upper extremity scale. We propose an implementation model that comprises a coordinating specialist physician and a national expert committee responsible for providing clinical intelligence to ensure appropriate use.
Conclusion: Our clinical recommendations and proposed implementation model will inform the optimum medical management of nmDMD in Sweden and help ensure timely, equal access to ataluren and similar orphan drugs.
Keywords: Ataluren; Duchenne muscular dystrophy; Implementation model; Sweden; Treatment guidelines.
©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.