Swiss Rare Disease Registry (SRDR)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Rare Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Swiss Rare Disease Registry
Overview
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.
Primary outcome measures
- Personal Data [Time frame: At diagnosis (age 0-99 years)]
- Diagnosis [Time frame: At diagnosis (age 0-99 years)]
- Date of Diagnosis [Time frame: At diagnosis (age 0-99 years)]
- Disease History [Time frame: At registration (age 0-99 years)]
- Diagnostic Method [Time frame: At diagnosis (age 0-99 years)]
- Molecular genetic information [Time frame: At diagnosis (age 0-99 years)]
- Other Registries [Time frame: At registration (age 0-99 years)]
Eligibility criteria
Inclusion criteria
- Diagnosed with a rare disease
- High suspicion of a rare disease
- Treated or living in Switzerland
- Signed informed consent
Exclusion criteria
- None
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Switzerland · 20 centers
- Kantonsspital Aarau, Pädiatrie — Aarau
- Kantonsspital Aarau — Aarau
- Center for Rare Diseases, Basel — Basel
- Universitäs-Kinderspital beider Basel, UKBB — Basel
- Universitätsspital Basel, USB — Basel
- Centro Malattie Rare della Svizzera Italiana — Bellinzona
- Center for Rare Diseases, Inselspital — Bern
- University of Bern, Inselspital Bern — Bern
- … and 12 more centers
Identifiers
NCT: NCT05179863 · 2017-02313