Ongoing updating and dissemination of standards of care for DMD

Ongoing updating and dissemination of standards of care for DMD
  • Contacts
  • Thomas Sejersen
    Thomas Sejersen
    Thomas Sejersen holds positions as Professor in Neuropediatrics at the Department of Women's and Children's...
  • Janbernd Kirschner
    Janbernd Kirschner
    Jan Kirschner (Professor of Pediatric Neurology) is chair of the TREAT-NMD executive committee since 2018....
  • Kate Bushby
    Kate Bushby
    Prof. Kate Bushby MD FRCP is a Professor of Neuromuscular Genetics. She is a...
  • Elizabeth Vroom
    Elizabeth Vroom
    Elizabeth Vroom is founder and president of the Duchenne Parent Project Netherlands since 1995 and...

An ENMC workshop report

How are care standards for DMD best disseminated, implemented and updated?
What are the bottlenecks for delivery of care recommendations, and what is the best way to overcome them?

These questions were the major topics for the 181st ENMC workshop entitled ”Ongoing updating and dissemination of standards of care for DMD” held in Naarden, the Netherlands, from 10-12 December 2010. The meeting was co-organized by the United Parent Projects Muscular Dystrophy, ENMC, CARE-NMD and TREAT-NMD and included representatives from Western and Eastern Europe and the USA.

The publication of the DMD care recommendations consensus document (The Diagnosis and Management of Duchenne Muscular Dystrophy, Lancet Neurol. 2010 Jan; 9(1):77-93; Lancet Neurol. 2010 Feb; 9(2):177-189) was an important step towards the establishment of a global baseline level of care. Measures must now be taken to ensure their dissemination and implementation. Furthermore, it is crucial that the care recommendations are continuously updated in order to keep pace with updates in best practice so that they retain their value over time.

At the ENMC workshop, an initial overview of  the status of the current DMD guidelines - dissemination, translations, planning for further development - was followed by a session on the roles of CARE-NMD (an EU project to implement best-practice standards of care for Duchenne muscular dystrophy across Europe), TREAT-NMD training courses and education activities, the TREAT-NMD clinical trials coordination centre, MD-Starnet and related US activities, and the French DMD network to help disseminate care standards.

Interesting discussions also arose from presentations on what can be learned from a care perspective from natural history (CINRG, North Star, UPD) and therapeutic studies (Ataluren, cardioprotection, and others), and how tools such as patient registries and the TREAT-NMD Care and Trial Sites Registry can be further developed to act as a resource. In particular, the potential use of “quality of care indicators” assessing key outcome indicators was presented and discussed as a means to make use of the TREAT-NMD clinical trials coordination centre for assessing care implementation.

Similarly, criteria for DMD reference centres were discussed, based on EU expectations for expert centres for rare diseases. The final sessions at the workshop dealt with care areas lacking in the existing document or in need of updating, and how to promote excellence of care and high quality research. It was concluded that the major involvement of patient representatives is crucial for the updating process, and that certain key areas need to be included here, including transition to adulthood, endocrine issues, and oral care. It was also suggested that efforts be made to integrate work on outcome measures to be used for clinical trials with care assessments used in regular clinical settings. A web-based program was presented that would allow for this and that would aid in the process of updating standards of care.

For further information about the process of updating the DMD care standards, contact Thomas Sejersen.

12 Apr 2017