Duchenne muscular dystrophy (DMD) is the most prevalent form of muscular dystrophy, affecting approximately 1 in 5,000 boys, resulting in progressive muscle weakness which significantly impacts the lifespan of those affected. New treatments and earlier diagnosis are transforming the landscape of DMD management, and while treatment options are increasing there is currently a lack of structured support for patients under the age of four. To address these developments, TREAT-NMD convened a project with patients, clinicians, and researchers to discuss the impact of early diagnosis and to collaborate on the creation of a framework for best practices, aiming to find the most beneficial approach for children and families. This project involved 42 stakeholders from across the globe who shared their perspectives on the needs and priorities for early diagnosis recommendations.
The project aimed to gain perspectives regarding the needs and priorities related to early diagnosis of DMD and to create a flexible framework to ensure the best model of care to support children and families following early diagnosis of DMD.
Between July and October 2023, 42 stakeholders from 26 institutions across three continents participated in online meetings and a hybrid workshop establishing an initial version of a flexible framework to ensure the best model of care to support children and families following early diagnosis of DMD. Recommendations were based on disease stage and divided into sections to be performed by specialised healthcare professionals.
The final workshop report has recently been accepted and published by the Journal of Neuromuscular Disease (NMD104467) and TREAT-NMD have begun to work on the next stage of this project which will focus on creating a highly detailed treatment pathway for this group of patients, with the aim of standardising and improving treatment options.
