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Methodological Center for Rare Diseases

Duration: March 2011 - August 2013

Funding: Federal Ministry of Education and Research BMBF

Principal Investigator: PD Dr. Janbernd Kirschner (Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg)

Associated Partners:
Freiburg Center for Rare Diseases FZSE (PD Dr. Janbernd Kirschner)

Institute of Medical Biometry and Medical Informatics IMBI (Prof. Dr. Dieter Hauschke)

Centre of Chronic Immunodeficiency CCI (PD Dr. Alexandra Nieters, Dr. Annette Pohl)

Clinical Trials Unit Freiburg (Rainer Bredenkamp)

Participants at the IMBI: Prof. Dr. rer. nat. Dieter Hauschke, Dr. rer. nat. Christine Porzelius, Sam Doerken


Part of the project "Statistical methods in clinical interventional and epidemiological studies of rare diseases", which is carried out at the IMBI:

Interventional and epidemiological studies have to be planned and analyzed according to explicitly defined methodological standards in order to obtain valid results. Therefore, the study population has to be large enough to ensure high statistical evidence. However, there are often only small patient populations available in rare diseases, which means that the maximal size of study population is limited per se. Furthermore, coordination of all planned studies is required in order to be able to recruit these few patients in the relevant studies. In a systematical literature review, it will be evaluated which methods for planning and analyzing studies in small populations have already been developed. Both, interventional and epidemiological studies will be considered. The suggested methods and the recommendation oft the EMEA guideline CHMP/EWP/83561/2005 ("Guideline on Clinical Trials in Small Populations") will be investigated. The identified methods are applied to actual interventional studies, which were already planned and analyzed by the participants of this project (MD-net, clinical trials unit). Furthermore, the methods will be evaluated using simulation studies.

Please find information about the entire project here.




  • Sam Doerken, Maja Mockenhaupt, Martin Schumacher, and Peggy Sekula, "Assessment of the "Case-Chaos" design as an adjunct to the case-control design.", American Journal of Epidemiology, 2013. DOI: 10.1093/aje/kwt31