NCT05179863

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500,000

participants targeted

Target at P75+ for all trials

Timeline
543mo left

Started Jan 2018

Longer than P75 for all trials

Geographic Reach
1 country

20 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress16%
Jan 2018Jan 2071

Study Start

First participant enrolled

January 1, 2018

Completed
3.9 years until next milestone

First Submitted

Initial submission to the registry

December 2, 2021

Completed
1 month until next milestone

First Posted

Study publicly available on registry

January 5, 2022

Completed
49 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2071

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2071

Last Updated

November 28, 2025

Status Verified

November 1, 2025

Enrollment Period

53 years

First QC Date

December 2, 2021

Last Update Submit

November 26, 2025

Conditions

Outcome Measures

Primary Outcomes (7)

  • 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)

Study Arms (1)

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.

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

All individuals with a high suspicion, or a confirmed diagnosis of a rare disease who are treated or living in Switzerland.

You may qualify if:

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

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (20)

Kantonsspital Aarau, Pädiatrie

Aarau, Switzerland

RECRUITING

Kantonsspital Aarau

Aarau, Switzerland

RECRUITING

Center for Rare Diseases, Basel

Basel, Switzerland

NOT YET RECRUITING

Universitäs-Kinderspital beider Basel, UKBB

Basel, Switzerland

NOT YET RECRUITING

Universitätsspital Basel, USB

Basel, Switzerland

NOT YET RECRUITING

Centro Malattie Rare della Svizzera Italiana

Bellinzona, Switzerland

RECRUITING

Center for Rare Diseases, Inselspital

Bern, Switzerland

RECRUITING

University of Bern, Inselspital Bern

Bern, Switzerland

RECRUITING

Center for Rare Diseases, Geneva

Geneva, Switzerland

RECRUITING

Hôpitaux universitaires de Genève, HUG

Geneva, Switzerland

RECRUITING

Center for Rare Diseases, Lausanne

Lausanne, Switzerland

RECRUITING

Centre hospitalier universitaire vaudois, CHUV

Lausanne, Switzerland

RECRUITING

Kantonsspital St. Gallen

Sankt Gallen, Switzerland

NOT YET RECRUITING

Ostschweizer Kinderspital

Sankt Gallen, Switzerland

NOT YET RECRUITING

Ostschweizer Zentrum für seltene Krankheiten, Pädiatrie

Sankt Gallen, Switzerland

NOT YET RECRUITING

Ostschweizer Zentrum für seltene Krankheiten

Sankt Gallen, Switzerland

NOT YET RECRUITING

Center for Rare Diseases, Zurich

Zurich, Switzerland

NOT YET RECRUITING

Universitäts-Kinderspital Zürich, Kispi

Zurich, Switzerland

RECRUITING

Universitätsklinik Balgrist

Zurich, Switzerland

NOT YET RECRUITING

Universitätsspital Zürich, USZ

Zurich, Switzerland

NOT YET RECRUITING

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Claudia E Kuehni, Prof. MD

    Institute of Social and Preventive Medicine (ISPM)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Myrofora Goutaki, Prof Dr

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
80 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 2, 2021

First Posted

January 5, 2022

Study Start

January 1, 2018

Primary Completion (Estimated)

January 1, 2071

Study Completion (Estimated)

January 1, 2071

Last Updated

November 28, 2025

Record last verified: 2025-11

Locations