The increasing prevalence of newborn genetic screening has led to earlier DMD diagnoses, with more and more patients being diagnosed prior to the development of symptoms. However, minimal clinical guidance currently exists for patients with such early diagnoses when managing the early pre-symptomatic stages of the disease. This gap leaves clinicians and families without established treatment pathways and can create the potential for significant psychological distress and inequity.
In 2023, TREAT-NMD supported subject matter experts led by Dr. Michelle Lorentzos (The Children’s Hospital at Westmead, Sydney), Prof. Laurent Servais (University of Oxford, UK) and Prof. Julie Parsons (Children’s Hospital Colorado, US) to address this. The team chaired the creation of a treatment framework to guide clinicians and health teams during this challenging early stage of the disease. Work on the framework has continued with the support of fourteen subject matter experts who have taken part in a Delphi study. A Delphi Study is a structured method that facilitates reaching a consensus among experts on complex issues through a series of questionnaires. Using this method, the panel assembled by TREAT-NMD validated the early treatment framework developed by the subject matter experts after analysing two rounds of questionnaires and discussion. The outcome of this work will be published in the coming year.
