Swiss Rare Disease Registry

Background: In Europe a disease is considered rare when fewer than one in 2'000 people are affected. Today, more than 7'000 rare diseases are known. Although scarce, rare diseases all together affect approximately 5-8% of the people around the world. In Switzerland, more than 500'000 people live with a rare disease. Clinical and epidemiological studies on rare diseases in Switzerland are lacking. Little is known about diagnostics, efficient treatment, and the course of rare diseases.

The cantonal Ethics Committee of Bern approved the SRDR project (project ID: 2017-02313, observational study, risk category A).

Objectives: The overall goal of the SRDR is to improve the care situation of people living with a rare disease in Switzerland. The development of a national registry to collect representative and complete data from children and adults with a rare disease in Switzerland helps to achieve this overall goal.

Primary objectives of the SRDR project:

1. Collect epidemiological data on rare diseases from all patients with rare diseases in Switzerland (incidence, prevalence, survival, mortality).
2. Collect data on quality of health care and outcomes (diagnosis, management, outcomes, quality indicators, treating institutions).
3. Setup a research platform for clinical, epidemiological, basic, and translational research on all rare diseases.
4. Facilitate patients to participate in national and international studies.
5. Promote harmonisation of data and methods between the numerous existing disease-specific registries in Switzerland.
6. Strengthen exchange with international rare disease registries for research and policy.
7. Build a network for communication, for patients and health care providers.