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Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. Methods: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries. Results: Survey respondents were 861 children and 201 adults. Data describe a European DMD population with mean age of 13.0 years (range 0.8–46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p

Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland). UK adults experience less comprehensive care compared to children in their access to specialized clinics, frequency of cardiac and respiratory assessments, and access to professional physiotherapy. Access to the latter is especially poor when compared to other European adult cohorts. Although the total number of nights in hospital (planned and unplanned admissions) is lower among UK adults than elsewhere in Western Europe, social inclusion lags behind other Western European countries. We observe that attendance at specialized clinic is associated with more frequent cardiac and respiratory assessments among adults, in line with international best practice. Attendance at such clinics in the UK, though comparable to other countries, is still far from universal. With an increasing adult population living with DMD, and cardiac and respiratory failure the leading causes of death in this population, we suggest the need for an urgent improvement in adult access to specialized clinics and to consistent, comprehensive best practice care.

Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists are largely aware of these care standards, local physicians responsible for the day-to-day care of patients and families may be less familiar. To facilitate optimal care, a one-page document has been generated from published care recommendations, summarizing the key elements of comprehensive care for people living with DMD (“Imperatives for Duchenne muscular dystrophy). This document was developed through an international collaboration between Parent Project Muscular Dystrophy (PPMD), United Parent Projects Muscular Dystrophy (UPPMD) and TREAT-NMD.

CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is the first step to identify gaps and to plan specific measures such as training sessions for professionals and workshops for patients. For this purpose, a large cross-sectional patient-survey about the received care and quality of life of patients with DMD has been performed since September 2011 in seven European countries: Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland and the United Kingdom. A total of 1,677 patients with Duchenne Muscular Dystrophy have received questionnaires via the national patient registries. For the assessment of quality of care we defined outcome and process indicators. Outcome indicators include stage of the disease, age at loss of ambulation, ability to sit, number of hospitalisations, cardiac and pulmonary function and age at diagnosis. Process indicators comprise the frequency of medical assessments and received treatment, e.g. the use of corticosteroids, non-invasive ventilation and assistive devices. By March 31st 1,093 of 1,677 patients/families responded (66 percent). Response by country were: Bulgaria 45/73, Czech Republic 92/191, Denmark 92/131, Germany 440/545, Hungary 62/70, Poland 137/246, and for United Kingdom 223/421. Key findings about health status, received treatment, and quality of life of patients with DMD in Europe will be presented. This is the largest ever cross-sectional survey of the care and quality of life of people with DMD. The final results will provide detailed insight into the current situation of people with DMD in Europe and help to identify gaps to further improve the situation of affected patients and families.

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.

CARE-NMD aims to disseminate and implement best-practice standards of care for Duchenne muscular dystrophy (DMD) in Europe. As part of the project a survey of health related quality of life was to be conducted in seven countries. To select relevant methods of measurement a screening of seven existing instruments was carried out. Main criteria for selection were frequency of use, correspondence with domains in the International Classification of Functioning, Disability and Health (ICF), comparability with background population, and scope of cross cultural and geographical assessments. Three pediatric (one disease specific and two generic) and two (generic) instruments were chosen. A comprehensive questionnaire containing the selected instruments was designed and implemented through patient registries in Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland, and the UK. The overall response rate was 66%. In addition to information on the experience of 1100 European patients and families living with DMD, the data will provide important knowledge about the options and feasibilities of cross national QoL assessments in Duchenne muscular dystrophy.