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General Information About Aspects Of Rare Diseases

Author(s): E. Schaefer, Created: 2010/07/20, last update: 2011/10/03

The lack of reliable epidemiological information and evidence-based treatment approaches is a well known challenge, common for all rare diseases. It is accompanied by the problem, that any newly acquired knowledge is difficult to exchange. The rare diseases task forces (www.rdtf.org) has clearly stated that patient registries and data bases constitute key instruments to develop clinical research in rare diseases which aims at improving patient care and healthcare planning.

The straightforward purpose is to document the natural history of the disease, meaning its characteristics, management, and outcomes with or without treatment. The scarcity of cases in rare diseases imposes a large geographical coverage, so data collection has to be international, in order to allow enough enrolment. Patient registries which are fully adapted to serve for epidemiological and clinical studies in rare diseases are expensive and difficult to manage. Clinical trials have to ensure a clear answer to the specific research questions and conclusive results; therefore, an adequate size of the sampled population is crucial. The collection of cases for epidemiological studies has to be exhaustive to guarantee comprehensive nature. An international database is the only way to pool data in order to achieve a sufficient sample size for epidemiological and additional clinical research.

The Euro-Histio-Net project wants to help solving this dilemma for Langerhans cell Histiocytosis (LCH) and related histiocytic syndromes. Since it is very complex and costly to establish and sustain an international data collection, the database is developed considering several aims with the same collection of data: to improve the care of the patients, to improve of the knowledge of the disease – linked with basic science projects – and the knowledge of the natural history of the disease and to develop reliable health indicators according to the specificity of rare diseases. The overall aim of the project is to provide an operative instrument of data collection, exchange and communication about Histiocytoses at different levels:

  • Among the EU centers of reference of the different countries.
  • Between non-specialized physicians and EU centers of reference.
  • Between patients/public/patient associations and European centers of reference (either their national ones or appropriate centers of reference in other countries).
  • Among the patient associations of the different countries.
  • Between patients/public and European patient associations dealing in the patients’ language.