Patients with rare diseases often go through a long history of suffering before finally receiving an accurate diagnosis. One reason for this is that the patient information necessary for research exists in varying languages and formats. This is set to change, thanks to a new European Joint Program in which Goethe University plays an important role.
For patients with rare diseases, the trek from doctor to doctor, and expert to expert, with a long paper trail of physician’s letters, test results, and images is practically a given. And when a diagnosis is finally made, they are faced with the difficulty of obtaining the correct therapy. To help these patients more quickly, valuable information regarding the course of the disease and its therapy, which is currently kept at individual healthcare institutions, must be made available for essential Europe-wide research.
The European Joint Program seeks to establish the technical and substantive requirements for clinical data to be used commonly for research purposes. Toward this end, Goethe University will receive the largest funding sum of all participating German institutions: more than one million euro over the coming five years.
In Frankfurt, the focus will be on developing tools to integrate and standardize patient data. This includes software solutions for setting up disease-specific patient registries in which specific patient data can be collected on an ongoing basis. This will result in a representative patient group whose data can be analyzed much more simply thanks to its standardization.
“I think we can say with pride that in the future, Frankfurt will have a central role in Europe regarding the patient registry of rare diseases,” says Professor T.O.F. Wagner from the Frankfurt Reference Centre of Rare Diseases. Together with Dr. Holger Storf, Head of the Medical Informatics Group, he developed an open source registration platform for rare disease. The modules in it were used, among other things, to set up the European Rare Disease Registry Infrastructure. They also constitute the basis for the approved work in Frankfurt which, together with Professor Gernot Rohde, Head of Pneumonology at the University Hospital, should contribute to an improved interoperability of registries.
“Rare diseases are a great example of a field of research that greatly profits from coordination at the European and international level, and which therefore requires technical support,” says Dr. Holger Storf. The new project should help overcome fragmentation and make cooperation easier.
Within the EU project, already existing tools and programs are to be consolidated and continued at a larger scale. Data from research, clinics, tests, processes, knowledge and know-how are to be shared throughout Europe in the future. In addition, an efficient model of financial support of all types of research on rare diseases – fundamental, clinical, health service – is to be introduced. The goal is an accelerated exploitation of research results in order to reduce the typical problems and ongoing suffering of patients.
Goethe University has already contributed to an improvement in the situation of patients with rare diseases through several different successful projects. In particular, the Mapping of Health Care Providers for People with Rare Diseases (www.se-atlas.de) deserves mention. It supports patients, their families, and health personnel in locating experts or patient organizations. The coordination and technical support of the European Reference Network for rare respiratory diseases (ERN-LUNG) is also in Frankfurt.