Swiss Rare Disease Registry (SRDR) (SRDR)

Swiss Rare Disease Registry

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases

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.

• Study Type: Observational
• Enrollment (Anticipated): 500000

Contacts and Locations

• Study Contact: Name: Claudia E Kuehni, Prof. MD; Phone Number: +41 31 684 48 87; Email: srdr@ispm.unibe.ch

Study Locations

• Switzerland
  • Aarau, Switzerland
    • Recruiting
    • Kantonsspital Aarau
    • Contact: Beat Müller, Prof.
  • Aarau, Switzerland
    • Recruiting
    • Kantonsspital Aarau, Pädiatrie
    • Contact: Henrik Kähler, Prof.
  • Basel, Switzerland
    • Not yet recruiting
    • Center for Rare Diseases, Basel
    • Contact: Andreas Wörner, Dr.med.
  • Basel, Switzerland
    • Not yet recruiting
    • Universitäs-Kinderspital beider Basel, UKBB
    • Contact: Andreas Wörner, Dr.med.
  • Basel, Switzerland
    • Not yet recruiting
    • Universitätsspital Basel, USB
    • Contact: Mike Recher, Prof.
  • Bellinzona, Switzerland
    • Recruiting
    • Centro Malattie Rare della Svizzera Italiana
    • Contact: Colette Balice-Bourgois, PhD
  • Bern, Switzerland
    • Recruiting
    • University of Bern, Inselspital Bern
    • Contact: Jean-Marc Nuoffer, Prof.
  • Bern, Switzerland
    • Recruiting
    • Center for Rare Diseases, Inselspital
    • Contact: Jean-Marc Nuoffer, Prof.
  • Geneva, Switzerland
    • Recruiting
    • Center for Rare Diseases, Geneva
    • Contact: Loredana D'Amato Sizonenko, Dr.med.
  • Geneva, Switzerland
    • Recruiting
    • Hôpitaux universitaires de Genève, HUG
    • Contact: Loredana D' Amato Sizonenko, Dr.med.
  • Lausanne, Switzerland
    • Recruiting
    • Centre Hospitalier Universitaire Vaudois, CHUV
    • Contact: Alessandra Strom, PhD
  • Lausanne, Switzerland
    • Recruiting
    • Center for Rare Diseases, Lausanne
    • Contact: Alessandra Strom, PhD
  • St. Gallen, Switzerland
    • Not yet recruiting
    • Kantonsspital St. Gallen
    • Contact: Stefan Bilz, PD Dr.
  • St. Gallen, Switzerland
    • Not yet recruiting
    • Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie
    • Contact: Dagmar L'Allemand, Prof.
  • St.Gallen, Switzerland
    • Not yet recruiting
    • Ostschweizer Kinderspital
    • Contact: Dagmar L'Allemand, Prof.
  • St.Gallen, Switzerland
    • Not yet recruiting
    • Ostschweizer Zentrum für seltene Krankheiten
    • Contact: Stefan Bilz, Dr.med.
  • Zurich, Switzerland
    • Not yet recruiting
    • Center for Rare Diseases, Zurich
    • Contact: Corinne Rueegger, Dr.med.
  • Zurich, Switzerland
    • Recruiting
    • Universitäts-Kinderspital Zürich, Kispi
    • Contact: Corinne Rueegger, Dr.med.
  • Zurich, Switzerland
    • Not yet recruiting
    • Universitätsklinik Balgrist
    • Contact: Madlaina Schöni, Dr.med.
  • Zurich, Switzerland
    • Not yet recruiting
    • Universitätsspital Zürich, USZ
    • Contact: Corinne Rueegger, Dr.med,

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: University of Bern
• Collaborators: University of Zurich; Kantonsspital Aarau; Ente Ospedaliero Cantonale, Bellinzona; Cantonal Hospital of St. Gallen; Federal Office of Public Health, Switzerland; University Children's Hospital Basel; Ostschweizer Kinderspital; Universitätsspital Zürich; Kosek National Coordination Rare Diseases Switzerland; Orphanet Suisse; Gebert Rüf-Stiftung; Universitäts-Kinderspital Zürich; University Hospital Inselspital, Bern; Centre hospitalier universitaire vaudois, Lausanne; Hôpitaux universitaires de Genève; Proraris Allianz seltener Krankheiten; Universitätsspital Basel; Universitätsklinik Balgrist; Centro Malattie Rare della Svizzera Italiana
• Investigators: Principal Investigator: Claudia E Kuehni, Prof. MD, Institute of Social and Preventive Medicine (ISPM)

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2018
• Primary Completion (Anticipated): January 1, 2071
• Study Completion (Anticipated): January 1, 2071

Study Registration Dates

• First Submitted: December 2, 2021
• First Submitted That Met QC Criteria: December 16, 2021
• First Posted (Actual): January 5, 2022

Study Record Updates

• Last Update Posted (Estimate): February 23, 2023
• Last Update Submitted That Met QC Criteria: February 21, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases
• Other Study ID Numbers: 2017-02313

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No