Swiss Rare Disease Registry (SRDR)
- Conditions
- Rare Diseases
- Registration Number
- NCT05179863
- Lead Sponsor
- University of Bern
- Brief Summary
The SRDR is a national registry that records rare diseases in people of any age who live in Switzerland. It serves as a platform for scientists, health professionals, affected people, and politicians.The SRDR aims to collect epidemiological data on rare diseases, and data on changes to the diagnosis over time. The SRDR will further serve as a research platform and facilitate patient participation in national and international studies. The SRDR will promote harmonization of data and method between the numerous existing disease-specific registries in Switzerland, will strengthen the exchange with international rare disease registries for research and policy, and will build a network for communication for patients and health care providers.
- Detailed Description
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.
Procedure: After a person has been diagnosed with a rare disease, the medical staff inform the patient and/or the legal representative orally about the SRDR and its purpose during regular consultation. The medical staff will hand over the written age-appropriate patient information and the informed consent form. Patient organizations and the staff from the SRDR also have the possibility to inform people about the SRDR. Further, patients have the possibility to use a secure web-based application for self-notification.
The patient or/and the legal representative have 6 weeks to give or refuse the informed consent. Patients who wish to participate sign the consent form and are then registered in the SRDR. If a patient or/and legal representative do neither refuse registration nor sign informed consent within 6 weeks, the data will be registered. If a patient does not wish to participate, only a minimal anonymous data set is recorded.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 500000
- Diagnosed with a rare disease
- High suspicion of a rare disease
- Treated or living in Switzerland
- Signed informed consent
- None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Personal Data At diagnosis (age 0-99 years) Registering patients personal data
Diagnosis At diagnosis (age 0-99 years) Orpha Code of the diagnosed rare disease
Date of Diagnosis At diagnosis (age 0-99 years) Date on which the diagnosis was made
Disease History At registration (age 0-99 years) History of first occurrence of symptoms
Diagnostic Method At diagnosis (age 0-99 years) Diagnostic method that was decisive for the diagnosis
Molecular genetic information At diagnosis (age 0-99 years) Name of affected genes and mutations
Other Registries At registration (age 0-99 years) Name of other national or international registries the patient is registered
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (20)
Ostschweizer Kinderspital
🇨🇭St.Gallen, Switzerland
Ostschweizer Zentrum für seltene Krankheiten
🇨🇭St.Gallen, Switzerland
Center for Rare Diseases, Zurich
🇨🇭Zurich, Switzerland
Universitätsspital Zürich, USZ
🇨🇭Zurich, Switzerland
Center for Rare Diseases, Basel
🇨🇭Basel, Switzerland
Center for Rare Diseases, Inselspital
🇨🇭Bern, Switzerland
Centro Malattie Rare della Svizzera Italiana
🇨🇭Bellinzona, Switzerland
Kantonsspital Aarau
🇨🇭Aarau, Switzerland
Hôpitaux universitaires de Genève, HUG
🇨🇭Geneva, Switzerland
Kantonsspital Aarau, Pädiatrie
🇨🇭Aarau, Switzerland
Universitäs-Kinderspital beider Basel, UKBB
🇨🇭Basel, Switzerland
Universitätsspital Basel, USB
🇨🇭Basel, Switzerland
University of Bern, Inselspital Bern
🇨🇭Bern, Switzerland
Center for Rare Diseases, Geneva
🇨🇭Geneva, Switzerland
Kantonsspital St. Gallen
🇨🇭St. Gallen, Switzerland
Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie
🇨🇭St. Gallen, Switzerland
Universitäts-Kinderspital Zürich, Kispi
🇨🇭Zurich, Switzerland
Universitätsklinik Balgrist
🇨🇭Zurich, Switzerland
Center for Rare Diseases, Lausanne
🇨🇭Lausanne, Switzerland
Centre hospitalier universitaire vaudois, CHUV
🇨🇭Lausanne, Switzerland