SP2: German Dystonia Registry: Natural History, Epidemiology, Genetics, and Clinical Trial Resource

Principle Investigator: Christine Klein
Co-Leader: Meike Kasten
Co-Investigator: Stephan Klebe
Co-Investigator: Kathrin Grundmann
Co-Investigator: Thomas Gasser

The main aim of core project 2, a dystonia registry, is to provide a resource for research and clinical trials with the ultimate aim to improve patient care.

Isolated and combined dystonias, in particular monogenic forms, are rare disorders and thus pose certain challenges requiring special methodological approaches. Registries are a powerful tool to pool case numbers and expertise while maintaining comprehensive clinical assessment and minimal burden to patients.

Our dystonia registry includes an integrated data platform and provides systematic and standardized clinical assessment with state-of-the-art tools. The proposed data platform builds on two previous efforts, a European dystonia database and a German Parkinson database, integrating the advantages of both tools. The integrated database will fulfill the safety requirements specified for ““good clinical practice” and clinical trials, while offering data management including all relevant, validted scales for the individual subtypes of dystonia.

Furthermore, we supplement the clinical registry with a comprehensive biobank, thus providing an unprecedented opportunity for large-scale basic research studies. The biobank will build on an existing resource with a BMBF-funded central biobank at the University of Würzburg. At the same time, the approaches supported by the registry span from basic research with genetic, cellular, and animal studies to translational clinical research including clinical trials.

In rare diseases, clinical trials depend on networks able to match the sample size requirements for meaningful studies.

Objectives of this project are:

• To build a German Dystonia Registry comprising 3,000 patients with different forms of isolated or combined dystonia and to systematically collect data on natural history, epidemiology, and environmental factors of dystonia subtypes including monogenic forms.
• To screen the Dystonia Registry Cohort for known monogenic forms of dystonia using a next-generation sequencing panel (to be performed within Subproject SP1).
• To provide a resource of clinical data and biomaterials serving all members of the consortium as a basis for clinical and basic research studies including clinical trials as outlined in the proposal and in an investigator-initiated fashion.