Clinical trial NCT05179863: Swiss Rare Disease Registry (SRDR)
Official title: Swiss Rare Disease Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rare Diseases
Lead sponsor: University of Bern
Sponsor class: OTHER
Collaborators: name: Federal Office of Public Health, Switzerland
name: Universitäts-Kinderspital Zürich
name: University Children's Hospital Basel
name: Insel Gruppe AG, University Hospital Bern
name: University Hospital, Zürich
name: Centre Hospitalier Universitaire Vaudois
name: University Hospital, Geneva
name: Proraris Allianz seltener Krankheiten
name: Kosek National Coordination Rare Diseases Switzerland
name: Orphanet Suisse
name: University of Zurich
name: Kantonsspital Aarau
name: Ente Ospedaliero Cantonale, Bellinzona
name: Cantonal Hospital of St. Gallen
name: Ostschweizer Kinderspital
name: University Hospital, Basel, Switzerland
name: Balgrist University Hospital
name: Centro Malattie Rare della Svizzera Italiana
First posted: 2022-01-05
Enrollment: 500000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All individuals with a high suspicion, or a confirmed diagnosis of a rare disease who are treated or living in Switzerland.

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.

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

Primary outcomes:
measure: Personal Data
timeFrame: At diagnosis (age 0-99 years)
measure: Diagnosis
timeFrame: At diagnosis (age 0-99 years)
measure: Date of Diagnosis
timeFrame: At diagnosis (age 0-99 years)
measure: Disease History
timeFrame: At registration (age 0-99 years)
measure: Diagnostic Method
timeFrame: At diagnosis (age 0-99 years)
measure: Molecular genetic information
timeFrame: At diagnosis (age 0-99 years)
measure: Other Registries
timeFrame: At registration (age 0-99 years)
Secondary outcomes:
Other outcomes:
Locations:
city: Aarau
country: Switzerland
facility: Kantonsspital Aarau, Pädiatrie
city: Aarau
country: Switzerland
facility: Kantonsspital Aarau
city: Basel
country: Switzerland
facility: Center for Rare Diseases, Basel
city: Basel
country: Switzerland
facility: Universitäs-Kinderspital beider Basel, UKBB
city: Basel
country: Switzerland
facility: Universitätsspital Basel, USB
city: Bellinzona
country: Switzerland
facility: Centro Malattie Rare della Svizzera Italiana
city: Bern
country: Switzerland
facility: Center for Rare Diseases, Inselspital
city: Bern
country: Switzerland
facility: University of Bern, Inselspital Bern
city: Geneva
country: Switzerland
facility: Center for Rare Diseases, Geneva
city: Geneva
country: Switzerland
facility: Hôpitaux universitaires de Genève, HUG
city: Lausanne
country: Switzerland
facility: Center for Rare Diseases, Lausanne
city: Lausanne
country: Switzerland
facility: Centre hospitalier universitaire vaudois, CHUV
city: St. Gallen
country: Switzerland
facility: Kantonsspital St. Gallen
city: St. Gallen
country: Switzerland
facility: Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie
city: St.Gallen
country: Switzerland
facility: Ostschweizer Kinderspital
city: St.Gallen
country: Switzerland
facility: Ostschweizer Zentrum für seltene Krankheiten
city: Zurich
country: Switzerland
facility: Center for Rare Diseases, Zurich
city: Zurich
country: Switzerland
facility: Universitäts-Kinderspital Zürich, Kispi
city: Zurich
country: Switzerland
facility: Universitätsklinik Balgrist
city: Zurich
country: Switzerland
facility: Universitätsspital Zürich, USZ
Study officials:
affiliation: Institute of Social and Preventive Medicine (ISPM)
name: Claudia E Kuehni, Prof. MD
role: PRINCIPAL_INVESTIGATOR
References: