BackgroundThe social and medical impact of rare diseases is increasingly recognized. Amyotrophic lateral sclerosis (ALS) is the most prevalent of the motor neuron diseases. It is characterized by rapidly progressive damage to the motor neurons with a survival of 2–5 years for the majority of patients. The objective of this work is to describe the study protocol and the implementation steps of the amyotrophic lateral sclerosis (ALS) registry Swabia, located in the South of Germany.Methods/DesignThe ALS registry Swabia started in October 2010 with both, the retrospective (01.10.2008-30.09.2010) and prospective (from 01.10.2010) collection of ALS cases, in a target population of 8.6 million persons in Southern Germany. In addition, a population based case–control study was implemented based on the registry that also included the collection of various biological materials.Retrospectively, 420 patients (222 men and 198 women) were identified. Prospectively data of ALS patients were collected, of which about 70% agreed to participate in the population-based case–control study. All participants in the case–control study provided also a blood sample. The prospective part of the study is ongoing.DiscussionThe ALS registry Swabia has been implemented successfully. In rare diseases such as ALS, the collaboration of registries, the comparison with external samples and biorepositories will facilitate to identify risk factors and to further explore the potential underlying pathophysiological mechanisms.

Background/aim: Invasive fungal infection (IFI) causes morbidity and mortality among patients with hematological malignancies. We evaluated the incidence and treatment characteristics of IFIs between October 2012 and December 2013. Materials and methods:Patients who received chemotherapy or stem cell transplantation were retrospectively evaluated. Fungal infections were classified according to EORTC criteria.Results: Prophylaxis and antifungal therapy were given in 30.5% and 23.6% of 522 chemotherapy courses, respectively. The incidence of proven/probable IFI was 6.7%. The incidence of IFI among patients who received prophylaxis was significantly higher than among those who did not receive it (11.3% vs. 4.6%, P = 0.005). There was no significant difference between patients who received mold-active and no mold-active prophylaxis (P = 0.098). The most common single agent therapy and causative pathogen was liposomal amphotericin B (57.1%) and Aspergillus (n = 5), respectively. IFI-attributable mortality rate was 14.2% in 6 weeks. Conclusion:The IFI incidence and mortality rate were similar to that reported in the literature. The IFI rate was higher in the group using prophylaxis, as this is a high-risk group. Although the IFI rate was not significantly different between groups using prophylaxis, patients should be followed closely for the effective use of posaconazole prophylaxis.

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Zusammenfassung Seltene Erkrankungen stellen aufgrund der kleinen Fallzahlen eine besondere Herausforderung f?r die klinische und epidemiologische Forschung dar. Krankheitsregister sind ein wichtiger Baustein in der Kl?rung der Krankheitsursachen und der Bewertung von Diagnose- und Therapieverfahren. Exemplarisch f?r die amyotrophe Lateralsklerose (ALS) stellen wir die M?glichkeiten von Krankheitsregistern als effizienten epidemiologischen Ansatz zur interdisziplin?ren Erforschung seltener Erkrankungen dar. Bei dem dargestellten Ansatz werden aufbauend auf dem klinischen ALS-Register Schwaben in einer populations-basierten Fall-Kontroll-Studie m??gliche Risikofaktoren wie z.?B. sportliche Aktivit?t, Kopfverletzungen und metabolische Faktoren bei der ALS untersucht, um pathophysiologische Mechanismen besser zu verstehen und um Ans?tze f?r neue therapeutische Strategien zu identifizieren.