Swiss Rare Disease Registry (SRDR)

Rare Diseases Clinical Trial

— SRDR  

Official title:

Swiss Rare Disease Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05179863
• Other study ID #: 2017-02313
• Status: Recruiting
• Start date: January 1, 2018
• Est. completion date: January 2071

Study information

• Verified date: February 2023
• Source: University of Bern
• Contact: Claudia E Kuehni, Prof. MD
• Phone: +41 31 684 48 87
• Email: srdr[@]ispm.unibe.ch
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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 information / eligibility

• Status: Recruiting
• Enrollment: 500000
• Est. completion date: January 2071
• Est. primary completion date: January 2071
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosed with a rare disease

• High suspicion of a rare disease

• Treated or living in Switzerland

• Signed informed consent or no refusal to participate

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Rare Diseases

Locations

Country	Name	City	State
Switzerland	Kantonsspital Aarau	Aarau
Switzerland	Kantonsspital Aarau, Pädiatrie	Aarau
Switzerland	Center for Rare Diseases, Basel	Basel
Switzerland	Universitäs-Kinderspital beider Basel, UKBB	Basel
Switzerland	Universitätsspital Basel, USB	Basel
Switzerland	Centro Malattie Rare della Svizzera Italiana	Bellinzona
Switzerland	Center for Rare Diseases, Inselspital	Bern
Switzerland	University of Bern, Inselspital Bern	Bern
Switzerland	Center for Rare Diseases, Geneva	Geneva
Switzerland	Hôpitaux universitaires de Genève, HUG	Geneva
Switzerland	Center for Rare Diseases, Lausanne	Lausanne
Switzerland	Centre hospitalier universitaire vaudois, CHUV	Lausanne
Switzerland	Kantonsspital St. Gallen	St. Gallen
Switzerland	Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie	St. Gallen
Switzerland	Ostschweizer Kinderspital	St.Gallen
Switzerland	Ostschweizer Zentrum für seltene Krankheiten	St.Gallen
Switzerland	Center for Rare Diseases, Zurich	Zurich
Switzerland	Universitäts-Kinderspital Zürich, Kispi	Zurich
Switzerland	Universitätsklinik Balgrist	Zurich
Switzerland	Universitätsspital Zürich, USZ	Zurich

Sponsors (20)

Lead Sponsor

Collaborator

University of Bern

Cantonal Hospital of St. Gallen, Centre hospitalier universitaire vaudois, Lausanne, Centro Malattie Rare della Svizzera Italiana, Ente Ospedaliero Cantonale, Bellinzona, Federal Office of Public Health, Switzerland, Gebert Rüf-Stiftung, Hôpitaux universitaires de Genève, Kantonsspital Aarau, Kosek National Coordination Rare Diseases Switzerland, Orphanet Suisse, Ostschweizer Kinderspital, Proraris Allianz seltener Krankheiten, Universitäts-Kinderspital Zürich, Universitätsklinik Balgrist, Universitätsspital Basel, Universitätsspital Zürich, University Children's Hospital Basel, University Hospital Inselspital, Bern, University of Zurich

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Personal Data	Registering patients personal data	At diagnosis (age 0-99 years)
Primary	Diagnosis	Orpha Code of the diagnosed rare disease	At diagnosis (age 0-99 years)
Primary	Date of Diagnosis	Date on which the diagnosis was made	At diagnosis (age 0-99 years)
Primary	Disease History	History of first occurrence of symptoms	At registration (age 0-99 years)
Primary	Diagnostic Method	Diagnostic method that was decisive for the diagnosis	At diagnosis (age 0-99 years)
Primary	Molecular genetic information	Name of affected genes and mutations	At diagnosis (age 0-99 years)
Primary	Other Registries	Name of other national or international registries the patient is registered	At registration (age 0-99 years)
Primary	Name of Biobank	Name of the biobank where biological samples are stored and available for research	At registration (age 0-99 years)