Press release
"Decision with foresight": Federal Joint Committee funds FAIR4Rare, the evaluation project for a National Registry for Rare Diseases
The Innovation Committee at the Federal Joint Committee (G-BA) is funding FAIR4Rare as one of 32 new projects in the field of health care research. In particular, it supports the evaluation of the pilot phase of an open National Registry for Rare Diseases (NARSE).
"Particularly in the context of rare diseases, we are dependent on data. These should bring together the small number of cases and provide important findings from research and care," says Dr. Josef Schepers, coordinator of FAIR4Rare at the Core Unit eHealth and Interoperability (CEI) of the Berlin Institute of Health at Charité (BIH). Furthermore, he emphasizes, "But only if the data is discoverable, accessible, interoperable, and reusable - in short, complies with FAIR principles - can the findings be translated into urgently needed therapies in a timely and focused manner."
Raising the visibility of medicine's "orphans"
NARSE, initiated by the Eva Luise and Horst Köhler Foundation and currently in its pilot phase, aims to improve the situation of patients with rare diseases. Starting with selected, potentially treatable ultra-rare diseases, the registry aims to increase the visibility of the disease burden of the "orphans of medicine". In addition, patients should have the opportunity to participate more easily in medical progress by being able to actively participate and network in NARSE.
In the FAIR4Rare project evaluating NARSE, partners from health services research, clinics, registry operators and patient organizations are assessing the extent to which the registry is accepted by users and which further developments are necessary to meet the special needs of patients with rare diseases. User surveys, comparison with data from the Medical Informatics Initiative (MII) and with data from existing registries such as the German Cystic Fibrosis Registry are central elements of the project. Led by Dr. Schepers at the Berlin Institute of Health, FAIR4Rare will run for a period of 30 months.
Optimizing and expanding the registry
"Evaluation is essential to the success of NARSE," emphasizes Prof. Dr. Annette Grüters-Kieslich, Chair of the ELHKS. "With the knowledge of what went well in the pilot phase and where things can go even better, we will be able to optimize the registry and successfully expand it to other diseases. The funding of FAIR4Rare by the G-BA is truly a decision with foresight!"
This opinion is also shared by Prof. Dr. Christopher Baum, Chair of the BIH Board of Directors, and Board Member for Translational Research at Charité. BIH aims to maintain and further develop the NARSE registry during the evaluation period. Prof. Baum is convinced: "Sharing data is a requirement for medical progress. NARSE and FAIR4Rare can make an important qualitative and quantitative contribution here, to ensure that translation in the field of rare diseases succeeds."