334P GrowDMD: an international study on transition of youth with Duchenne muscular dystrophy (DMD)

• Published in: Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.665
• Main Authors: Friedrich, S., Langer, T., Reeskau, G., Rodger, S., Willems, J., de Angelis, F., Brigladori, B., Guastafierro, E., Leonardi, M., Marcassoli, A., Moroni, I., Nardocci, N., Fournier, A., Frei, J., Gutierrez Rojas, R., Kraus De Camargo, O., Pozniak, K., Swain, A., Gorter, J., Osman, H.
• Format: Article
• Language: English
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2024.07.674

Care pathways for transition from childhood to adulthood are a well-described phenomenon. However, the transition of patients with Duchenne muscular dystrophy (DMD) is still neither defined nor implemented at national or international levels. DMD is a rare X-linked disorder characterized by progressive muscle degeneration, making it a chronic debilitating disease. The period of transition from pediatric to adult care is particularly challenging for adolescents with DMD, with the disease progressing at a time when youth typically strive for greater independence. The study GrowDMD (http://www.growdmd.org) aims to explore the diverse experiences of young people living with DMD and their families, as well as healthcare providers, in Canada, Germany, and Italy, addressing the following research questions: 1. How do patients with DMD and their caregivers experience the transition to adult care? 2. What measures and strategies are currently implemented in the care organizations of participating countries to support and facilitate the transition of care? 3. How can the transition of care be improved? This study utilizes an integrated knowledge translation process in which researchers, knowledge users, Patient Advocacy Organisations (PAOs) representatives, and patient partners collaborate across all stages of the research process. Following a systematic review of the literature; we conduct semi-structured interviews with 1) adolescents living with DMD and their parents/caregivers, 2) healthcare providers involved in the transition process, as well as qualitative surveys and focus groups. Together with youth with DMD and caregivers we aim to identify potential solutions and develop knowledge translation products. The integrated nature of this project will facilitate the co-creation of general recommendations, tailored to local contexts that can serve as a model for the transition care path for youth with DMD and other rare disease in participating countries and around the world.