Swiss Rare Disease Registry (SRDR)

NCT ID: NCT05179863

Last Updated: 2025-11-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-01

Study Completion Date

2071-01-31

Brief Summary

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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

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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.

Conditions

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Rare Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patient population

Children, adolescents, and adults with a high suspicion, or a confirmed diagnosis of a rare disease who are treated or living in Switzerland.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Diagnosed with a rare disease
* High suspicion of a rare disease
* Treated or living in Switzerland
* Signed informed consent

Exclusion Criteria

* None
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Federal Office of Public Health, Switzerland

OTHER_GOV

Sponsor Role collaborator

Universitäts-Kinderspital Zürich

UNKNOWN

Sponsor Role collaborator

University Children's Hospital Basel

OTHER

Sponsor Role collaborator

Insel Gruppe AG, University Hospital Bern

OTHER

Sponsor Role collaborator

University Hospital, Zürich

OTHER

Sponsor Role collaborator

Centre Hospitalier Universitaire Vaudois

OTHER

Sponsor Role collaborator

University Hospital, Geneva

OTHER

Sponsor Role collaborator

Proraris Allianz seltener Krankheiten

UNKNOWN

Sponsor Role collaborator

Kosek National Coordination Rare Diseases Switzerland

UNKNOWN

Sponsor Role collaborator

Orphanet Suisse

UNKNOWN

Sponsor Role collaborator

University of Zurich

OTHER

Sponsor Role collaborator

Kantonsspital Aarau

OTHER

Sponsor Role collaborator

Ente Ospedaliero Cantonale, Bellinzona

OTHER

Sponsor Role collaborator

Cantonal Hospital of St. Gallen

OTHER

Sponsor Role collaborator

Ostschweizer Kinderspital

OTHER

Sponsor Role collaborator

University Hospital, Basel, Switzerland

OTHER

Sponsor Role collaborator

Balgrist University Hospital

OTHER

Sponsor Role collaborator

Centro Malattie Rare della Svizzera Italiana

UNKNOWN

Sponsor Role collaborator

University of Bern

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Claudia E Kuehni, Prof. MD

Role: PRINCIPAL_INVESTIGATOR

Institute of Social and Preventive Medicine (ISPM)

Locations

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Kantonsspital Aarau, Pädiatrie

Aarau, , Switzerland

Site Status RECRUITING

Kantonsspital Aarau

Aarau, , Switzerland

Site Status RECRUITING

Center for Rare Diseases, Basel

Basel, , Switzerland

Site Status NOT_YET_RECRUITING

Universitäs-Kinderspital beider Basel, UKBB

Basel, , Switzerland

Site Status NOT_YET_RECRUITING

Universitätsspital Basel, USB

Basel, , Switzerland

Site Status NOT_YET_RECRUITING

Centro Malattie Rare della Svizzera Italiana

Bellinzona, , Switzerland

Site Status RECRUITING

Center for Rare Diseases, Inselspital

Bern, , Switzerland

Site Status RECRUITING

University of Bern, Inselspital Bern

Bern, , Switzerland

Site Status RECRUITING

Center for Rare Diseases, Geneva

Geneva, , Switzerland

Site Status RECRUITING

Hôpitaux universitaires de Genève, HUG

Geneva, , Switzerland

Site Status RECRUITING

Center for Rare Diseases, Lausanne

Lausanne, , Switzerland

Site Status RECRUITING

Centre hospitalier universitaire vaudois, CHUV

Lausanne, , Switzerland

Site Status RECRUITING

Kantonsspital St. Gallen

Sankt Gallen, , Switzerland

Site Status NOT_YET_RECRUITING

Ostschweizer Kinderspital

Sankt Gallen, , Switzerland

Site Status NOT_YET_RECRUITING

Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie

Sankt Gallen, , Switzerland

Site Status NOT_YET_RECRUITING

Ostschweizer Zentrum für seltene Krankheiten

Sankt Gallen, , Switzerland

Site Status NOT_YET_RECRUITING

Center for Rare Diseases, Zurich

Zurich, , Switzerland

Site Status NOT_YET_RECRUITING

Universitäts-Kinderspital Zürich, Kispi

Zurich, , Switzerland

Site Status RECRUITING

Universitätsklinik Balgrist

Zurich, , Switzerland

Site Status NOT_YET_RECRUITING

Universitätsspital Zürich, USZ

Zurich, , Switzerland

Site Status NOT_YET_RECRUITING

Countries

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Switzerland

Central Contacts

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Cheryl von Arx

Role: CONTACT

+41 31 684 48 87

Myrofora Goutaki, Prof Dr

Role: CONTACT

Facility Contacts

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Henrik Kähler, Prof.

Role: primary

Beat Müller, Prof.

Role: primary

Andreas Wörner, Dr.med.

Role: primary

Andreas Wörner, Dr.med.

Role: primary

Mike Recher, Prof.

Role: primary

Colette Balice-Bourgois, PhD

Role: primary

Jean-Marc Nuoffer, Prof.

Role: primary

Jean-Marc Nuoffer, Prof.

Role: primary

Loredana D'Amato Sizonenko, Dr.med.

Role: primary

Loredana D' Amato Sizonenko, Dr.med.

Role: primary

Alessandra Strom, PhD

Role: primary

Alessandra Strom, PhD

Role: primary

Stefan Bilz, PD Dr.

Role: primary

Dagmar L'Allemand, Prof.

Role: primary

Dagmar L'Allemand, Prof.

Role: primary

Stefan Bilz, Dr.med.

Role: primary

Corinne Rueegger, Dr.med.

Role: primary

Corinne Rueegger, Dr.med.

Role: primary

Madlaina Schöni, Dr.med.

Role: primary

Corinne Rueegger, Dr.med,

Role: primary

Other Identifiers

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2017-02313

Identifier Type: -

Identifier Source: org_study_id

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