title: Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS)--registry Swabia.
abstract: BACKGROUND
  The 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
  The 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.
  
  
  CONCLUSIONS
  The 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.
authors: Institute of Epidemiology and Medical Biometry, Ulm University, Helmholtzstr, 22, Ulm 89081, Germany. gabriele.nagel@uni-ulm.de
authors: Gabriele
authors: G
authors: Nagel
authors: Hatice
authors: H
authors: Unal
authors: Angela
authors: A
authors: Rosenbohm
authors: Albert C
authors: AC
authors: Ludolph
authors: Dietrich
authors: D
authors: Rothenbacher
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology*; D016022:Case-Control Studies; D018672:Community Health Planning; D005260:Female; D005500:Follow-Up Studies; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007256:Information Systems; D008297:Male; D035583:Rare Diseases; D012042:Registries / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index