Rare DiseasesSRDRNCT05179863
Swiss Rare Disease Registry (SRDR)
An observational study of Rare Diseases, run by University of Bern at 20 sites in Switzerland.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases
- How many people
- 500,000 participants
- Where
- 20 sitesSwitzerland
- Study dates
- 1 Jan 2018to Jan 2071
- How long will I take part?
- 80 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All individuals with a high suspicion, or a confirmed diagnosis of a rare disease who are treated or living in Switzerland.
Who may be able to join
- Diagnosed with a rare disease
- High suspicion of a rare disease
- Treated or living in Switzerland
- Signed informed consent
Who cannot join
- None
Trial locations and contacts
20 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Myrofora Goutaki, Prof Dr contact
20 sites in 1 country
Switzerland20 sites, 20 recruiting
- Recruiting
Kantonsspital Aarau, Pädiatrie
Aarau
Henrik Kähler, Prof.
- Recruiting
Kantonsspital Aarau
Aarau
Beat Müller, Prof.
- Not yet recruiting
Center for Rare Diseases, Basel
Basel
Andreas Wörner, Dr.med.
- Not yet recruiting
Universitäs-Kinderspital beider Basel, UKBB
Basel
Andreas Wörner, Dr.med.
- Not yet recruiting
Universitätsspital Basel, USB
Basel
Mike Recher, Prof.
- Recruiting
Centro Malattie Rare della Svizzera Italiana
Bellinzona
Colette Balice-Bourgois, PhD
- Recruiting
Center for Rare Diseases, Inselspital
Bern
Jean-Marc Nuoffer, Prof.
- Recruiting
University of Bern, Inselspital Bern
Bern
Jean-Marc Nuoffer, Prof.
- Recruiting
Center for Rare Diseases, Geneva
Geneva
Loredana D'Amato Sizonenko, Dr.med.
- Recruiting
Hôpitaux universitaires de Genève, HUG
Geneva
Loredana D' Amato Sizonenko, Dr.med.
- Recruiting
Center for Rare Diseases, Lausanne
Lausanne
Alessandra Strom, PhD
- Recruiting
Centre hospitalier universitaire vaudois, CHUV
Lausanne
Alessandra Strom, PhD
- Not yet recruiting
Kantonsspital St. Gallen
Sankt Gallen
Stefan Bilz, PD Dr.
- Not yet recruiting
Ostschweizer Kinderspital
Sankt Gallen
Dagmar L'Allemand, Prof.
- Not yet recruiting
Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie
Sankt Gallen
Dagmar L'Allemand, Prof.
- Not yet recruiting
Ostschweizer Zentrum für seltene Krankheiten
Sankt Gallen
Stefan Bilz, Dr.med.
- Not yet recruiting
Center for Rare Diseases, Zurich
Zurich
Corinne Rueegger, Dr.med.
- Recruiting
Universitäts-Kinderspital Zürich, Kispi
Zurich
Corinne Rueegger, Dr.med.
- Not yet recruiting
Universitätsklinik Balgrist
Zurich
Madlaina Schöni, Dr.med.
- Not yet recruiting
Universitätsspital Zürich, USZ
Zurich
Corinne Rueegger, Dr.med,
About this study
Official title: 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.
Read the 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:
- Collect epidemiological data on rare diseases from all patients with rare diseases in Switzerland (incidence, prevalence, survival, mortality).
- Collect data on quality of health care and outcomes (diagnosis, management, outcomes, quality indicators, treating institutions).
- Setup a research platform for clinical, epidemiological, basic, and translational research on all rare diseases.
- Facilitate patients to participate in national and international studies.
- Promote harmonisation of data and methods between the numerous existing disease-specific registries in Switzerland.
- Strengthen exchange with international rare disease registries for research and policy.
- 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
- Rare Diseases
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Personal Data
Registering patients personal data
Measured: At diagnosis (age 0-99 years)
Diagnosis
Orpha Code of the diagnosed rare disease
Measured: At diagnosis (age 0-99 years)
Date of Diagnosis
Date on which the diagnosis was made
Measured: At diagnosis (age 0-99 years)
Disease History
History of first occurrence of symptoms
Measured: At registration (age 0-99 years)
Diagnostic Method
Diagnostic method that was decisive for the diagnosis
Measured: At diagnosis (age 0-99 years)
Molecular genetic information
Name of affected genes and mutations
Measured: At diagnosis (age 0-99 years)
Other Registries
Name of other national or international registries the patient is registered
Measured: At registration (age 0-99 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jan 2022
- Study start1 Jan 2018
- Primary completionJan 2071 (estimated)
- Study completionJan 2071 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by University of BernThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500,000 participants (estimated)
- Target duration
- 80 Years
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Collaborators
- Federal Office of Public Health, Switzerland, Universitäts-Kinderspital Zürich, University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern, University Hospital, Zürich, Centre Hospitalier Universitaire Vaudois, University Hospital, Geneva, Proraris Allianz seltener Krankheiten, Kosek National Coordination Rare Diseases Switzerland, Orphanet Suisse, University of Zurich, Kantonsspital Aarau, Ente Ospedaliero Cantonale, Bellinzona, Cantonal Hospital of St. Gallen, Ostschweizer Kinderspital, University Hospital, Basel, Switzerland, Balgrist University Hospital, Centro Malattie Rare della Svizzera Italiana
- Responsible party
- Sponsor
- Investigators
- Claudia E Kuehni, Prof. MD, Principal investigator, Institute of Social and Preventive Medicine (ISPM)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05179863
- Sponsor's protocol ID
- 2017-02313
- Other IDs
- 2017
- Acronym
- SRDR
- Status last verified
- Nov 2025
- First submitted
- 2 Dec 2021
- Last updated
- 28 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Swiss Rare Disease Registry
- ClinicalTrials.gov ID
- NCT05179863
- Acronym / sponsor ID
- SRDR / 2017-02313
- Conditions
- Rare Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500,000 participants (estimated)
- Lead sponsor
- University of BernUniversity, hospital or other
- Collaborators
- Federal Office of Public Health, Switzerland, Universitäts-Kinderspital Zürich, University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern, University Hospital, Zürich, Centre Hospitalier Universitaire Vaudois, University Hospital, Geneva, Proraris Allianz seltener Krankheiten, Kosek National Coordination Rare Diseases Switzerland, Orphanet Suisse, University of Zurich, Kantonsspital Aarau, Ente Ospedaliero Cantonale, Bellinzona, Cantonal Hospital of St. Gallen, Ostschweizer Kinderspital, University Hospital, Basel, Switzerland, Balgrist University Hospital, Centro Malattie Rare della Svizzera Italiana
- Study start
- 1 Jan 2018 (actual)
- Primary completion
- Jan 2071 (estimated)
- Study completion
- Jan 2071 (estimated)
- First posted
- 5 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Collect epidemiological data on rare diseases from all patients with rare diseases in Switzerland (incidence, prevalence, survival, mortality).
- Collect data on quality of health care and outcomes (diagnosis, management, outcomes, quality indicators, treating institutions).
- Setup a research platform for clinical, epidemiological, basic, and translational research on all rare diseases.
- Facilitate patients to participate in national and international studies.
- Promote harmonisation of data and methods between the numerous existing disease-specific registries in Switzerland.
- Strengthen exchange with international rare disease registries for research and policy.
- 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 80 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All individuals with a high suspicion, or a confirmed diagnosis of a rare disease who are treated or living in Switzerland.
Key inclusion criteria (4 listed)
- Diagnosed with a rare disease
- High suspicion of a rare disease
- Treated or living in Switzerland
- Signed informed consent
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Personal Data
Time frame: At diagnosis (age 0-99 years)
Registering patients personal data
Diagnosis
Time frame: At diagnosis (age 0-99 years)
Orpha Code of the diagnosed rare disease
Date of Diagnosis
Time frame: At diagnosis (age 0-99 years)
Date on which the diagnosis was made
Disease History
Time frame: At registration (age 0-99 years)
History of first occurrence of symptoms
Diagnostic Method
Time frame: At diagnosis (age 0-99 years)
Diagnostic method that was decisive for the diagnosis
Molecular genetic information
Time frame: At diagnosis (age 0-99 years)
Name of affected genes and mutations
Other Registries
Time frame: At registration (age 0-99 years)
Name of other national or international registries the patient is registered
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Myrofora Goutaki, Prof Dr contact
Claudia E Kuehni, Prof. MD principal investigator
Institute of Social and Preventive Medicine (ISPM)
20 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases, run by University of Bern at 20 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Cheryl von Arx (+41 31 684 48 87, srdr.ispm@unibe.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Personal Data (time frame: At diagnosis (age 0-99 years)). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Nov 2025.