DMD is a rare x-linked, genetic disease affecting primarily males with a prevalence of 1/3,500 – 1/9,300. It leads to a progressive muscle weakness due to degeneration of skeletal, smooth and cardiac muscle cells. Diagnosis is often made at around age of 4-5 years. Loss of independent ambulation occurs between the ages of 6 and 13 years. Additional symptoms include the development of joint contractures and scoliosis and – later in the course – respiratory insufficiency and cardiomyopathy. Furthe
Conditions
Interventions
Group 1: Patients with the Diagnosis DMD (age 15-25 years old), their relatives
and healthcare professionals involved in the transition in Canada, Germany, and Italy. Data will be collected (1) during single-interviews (24 patients and 21 relatives, als well as relevant healthcar
Sponsors
European Joint Programme for Rare Diseases
Eligibility
Sex/Gender
Male
Age
15 Years to 25 Years
Inclusion criteria
Inclusion criteria: Patients with the diagnosis DMD (age 15-25 years old), their relatives and the health care professionals involved in the transition process, living in Canada, Germany, and Italy.
Exclusion criteria
Exclusion criteria: Patients with other diagnosis, siblings; and other professionals (e.g. teacher)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| In the qualitative comparison, differences and similarities on the level of patients/relatives and care organizations with regard to the implementation of transition guidelines will be examined. | — |
Secondary
| Measure | Time frame |
|---|---|
| In the quantitative part, different quantifiable transition-aspects from the patient-view point will be assessed through standardized questionnaires. Differences between the three different countries as well as between three different age groups will be examined. | — |
Countries
Canada, Germany, Italy
Contacts
Public ContactThorsten Langer
Klinik für Neuropädiatrie und MuskelerkrankungenZentrum für Kinder- und JugendmedizinUNIVERSITÄTSKLINIKUM FREIBURG
Outcome results
None listed