State of knowledge about information sources and health care centres for rare diseases among affected people in Germany

Abstract

Objectives: About four million people are affected by rare diseases in Germany and 30 million in the EU. In 2013, a national action plan for people with rare diseases was adopted in Germany which is also aimed at improving the information situation and better gathering of information for affected patients and their families. Since then, various sources of information and medical care structures have been made available. The aim of this study was to evaluate the state of knowledge about information sources and health care centres for rare diseases among those affected. Methods: The study was carried out as anonymous survey among the member associations of the German Alliance for Chronic Rare Diseases (German acronym ACHSE e. V.). For this, a questionnaire was developed which in addition to questions on gender, age and disease comprised free text input referring to knowledge of health care centres or expert centres and source of information on rare diseases in Germany. Results: A total of 484 individuals suffering from 96 different rare diseases participated in the survey. Of these, 74.47% are aware of medical or dental care centres for treatment of their types of rare disease; 69.31% use self-help groups as a source of information, only a few respondents know government-sponsored "se-atlas" and "Orphanet". Conclusion: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard.

Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions

“…Some also emphasized that PI-RDR may be a method to better deal with the particular challenges related to rare diseases research such as lack of interest, financing, awareness and policies support. When the number and size of research studies are small, as in RDs research, targeted outcomes and dissemination seems of particular importance [ 44 – 48 ]. To overcome this barriers Gagnon et al [ 3 ] have introduced the Knowledge Mining methodology Framework (RKMMF) to improve the development of knowledge translation products and dissemination in RDs for developing clinical practice guidelines and evidence based practice.…”