DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Abstract

Abstract CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. Patient registries offer a valuable approach to engaging with the patient community, both to disseminate information and to survey their experiences. Registries permit the identification of a patient population with a precise genetic diagnosis, and are thus essential to the development of novel, mutation-specific therapeutic approaches such as exon-skipping. A core driving factor in their development has often therefore been clinical trial readiness: e.g. determining trial viability for a specific genetic mutation. However, as registries enable contact with a patient population, they also offer research opportunities outside the clinical trial domain. These include surveying availability of high-quality care and quality of life issues. Furthermore, registries permit the distribution of care information aimed at that particular audience. CARE-NMD has utilised patient registries in both of these contexts. The project has promoted knowledge of best-practice care via the translation and dissemination of the Family Guide to the care standards. This is now available in 22 languages via the CARE-NMD and TREAT-NMD websites, with 200 monthly downloads. The project has also conducted, via national patient registries in seven countries (Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK), the largest ever survey of care and quality of life for DMD. The overall response rate is 66%, with 1100 responses received (April 2012), and national response rates of 48–89%. The data gathered provide unparalleled information on the experience of patients and families living with DMD across Europe. The use of registries also enables the return of information to the patient community, enhancing patient-led advocacy for the availability of better care, and strengthening mutual understanding between rare disease researchers and the patient community.