Growing into adulthood with Duchenne Muscular Dystrophy

comparing patient experiences and systems to optimize care

Transition has been identified as a crucial problem of healthcare delivery for patients with chronic diseases for decades. Despite the development of national and international guidelines for best practice, patients, caregivers and care providers often encounter organizational, cultural, administrative or policy barriers that make it challenging to realize the guidelines into practice.

The purpose of this project is to study the challenges that adolescents with Duchenne muscular dystrophy (DMD) face when transitioning from pediatric to adult healthcare systems. DMD is the most common neuromuscular disorder in children. The research team will interview patients, caregivers, and healthcare providers in Germany, Italy, and Canada to compare medical systems in different settings and learn from their solutions. The data collected will be analyzed to make improvements to the transition process and increase opportunities for participation for patients with DMD. Patients and caregivers will participate in interviews, focus groups, and surveys about their transitional experiences. The guidelines developed from this study can be used to create a model for the care path of DMD patients.  The learnings from this project will be shared internationally. This project also collaborates with patient research partners in all stages of the research process so that the findings are relevant and useful to patients and caregivers.


For patients with Duchenne Muscular Dystrophy (DMD) the transition period is particularly challenging due to the loss of body functions during adolescence. DMD is a rare X-linked disease characterized by progressive muscle degeneration resulting in loss of ambulation and severe multisystem complications. DMD is the most prevalent neuromuscular disorder in children, with an estimated incidence  of one in 3500 – 9300 live male births. After improvements in medical management, in particular respiratory and cardiac care, some patients now live beyond their third or fourth decade.


In this study, we will analyse the lived experience of DMD patients living in different countries with high quality medical systems but differing organizational and geographic structures. In a mixed methods design we will compare differences and similarities on the level of patients/caregivers and care organizations with regard to the realisation of transition guidelines. Through the identification of barriers and enablers we will develop a conceptual model and policy recommendations to improve the quality of transition and opportunities for participation for DMD patients which can be applied to other countries.