Jana Strenková

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

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 < 0.0001). The majority of patients reported receiving care in line with guidelines, although we identified significant differences between countries and important shortcomings in prevention and treatment. Summarised, 35% of patients aged≥ nine years received no corticosteroid medication, 24% of all patients received no regular physiotherapy, echocardiograms were not performed regularly in 22% of patients, pulmonary function was not regularly assessed in 71% of non-ambulatory patients. Patients with regular follow-up by neuromuscular specialists were more likely to receive care according to guidelines, were better satisfied, and experienced shorter unplanned hospitalization periods.

EMPIRE Registry, Czech Part: Impact of Demographics, Pulmonary Function and HRCT on Survival and Clinical Course in Idiopathic Pulmonary Fibrosis

Prognostic factors of idiopathic pulmonary fibrosis (IPF) currently recognized include changes in vital capacity and radiologic findings. However, most of the prognostic studies in IPF are based on clinical studies with preselected IPF populations. Therefore, we decided to analyze the factors influencing IPF prognosis based on the real‐practice data from our IPF registry.

Long term experience of patients with unresectable or metastatic KIT positive gastrointestinal stromal tumours.

A retrospective analysis of consecutive patients (183 in total, of which 105 were males and 78 females) with gastrointestinal stromal tumour (GIST) was performed. The mean age was 61 years, median age 64 years. The most frequent localization of the tumour was stomach in 74 patients (40.4 %) and the small intestine in 46 patients (25.1 %). Two or more different synchronous or metachronous cancers occurred in 34 (18.6 %) patients with histologically confirmed GIST. Ninety-six patients were treated with imatinib mesylate in palliative setting during the course of their disease. The therapy was finished in 60 patients and 36 patients have been treated so far. The median progression-free survival reached 32.9 months in the group of 96 patients treated with imatinib. The median overall survival in the group of 96 patients treated for metastatic disease reached 77 months. Two-year and 5-year survival was 85.2 % and 63.1 %, respectively. The second-line therapy with sunitinib malate was administered in 37 patients, of which 31 finished and 6 continued in the therapy. The median progression free survival and median survival since the sunitinib therapy initiation reached 8.4 and 22.1 months, respectively (Tab. 2, Fig. 2, Ref. 16).

G.P.250

The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning on epidemiologic data. Besides of the local hospital-based databases and registries we can find in Czech Republic four national registries of hereditary neuromuscular disorders associated under unique name: ReaDy (registry of muscular dystrophy). Four registries are currently running: Duchenne/Becker muscular dystrophy (DMD/BMD), spinal muscular atrophy (SMA), myotonic disorders (MD), and facioscapulohumeral muscular dystrophy (FSHD). Each registry is independent and has its own curator. The registries are under the supervision of Czech neuromuscular society. The technology, the data collection, the storage, the backup, and analyses are provided by the Institute of Biostatistics and Analyses, Masaryk University, Brno, CR. On-line data collection is based on a TRIALDB system developed on Yale University, Connecticut, USA, which is widely used for this purpose. For each patient is generated a unique ID; all data transfer is encrypted and the system is designed to prevent their unauthorized use during data transfer. Laws and regulations in CR require having an informed consent from all patients whose data are used in the registry. All claims for personal data protection were met. Data are stored on the central server on Masaryk University in Brno in Oracle 9i database. Since 2011 to the March 2014 796 Czech patients were collected: 370 DM, 277 DMD/BMD, 89 FSHD, and 60 SMA. The majority (76%) of all records are from two centers (Prague and Brno). The average annual increase during last three years is 96 patients. The biggest acquisition reveal patients with myotonic disorders (about 45 per year), the smallest growth has the registry FSHD with approx. 11 patients per annum.