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Orphanet Canada
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:: Sources & Inclusion Criteria

 

Orphanet-Canada data collection is done by the information scientists. Different sources and inclusion criteria are used to ensure the quality of the information in the database. All data is reviewed and approved by the country coordinator and/or the international coordination team prior to publication. 

 

 

Expert centers

Inclusion criteria will be discussed at an upcoming meeting of the SAB

 


Laboratories

Sources

 

Inclusion criteria

Biological analyses (molecular genetics, biochemistry, etc) performed in a clinical setting to diagnose or confirm the diagnosis of a rare disease or a group of rare diseases are included. Only analyses requiring rare technical competence should be included. Routine analyses performed in most laboratories are not included.

As a database of reference for genetic services, Orphanet also collects exhaustive information on constitutional genetic testing, regardless of disease prevalence.

Only laboratories with an official accreditation and/or who participate in an external quality assessment are included.

 

 

Patient Organisations

Sources

  • Canadian Organization for Rare Disorders (CORD)
  • Regroupement Québécois des Maladies Orphelines (RQMO)
  • Personal contacts through participation in conferences
  • Contact form submitted on Orphanet 

 

Inclusion criteria

Patient organisations or foundations which provide support for a rare disease or a group of rare diseases are included on Orphanet. They need to be:

  • Registered charities
  • Active
  • Effectively contacted via email and/or phone
  • Provide information of high quality
  • Provide direct support to patients

National organisations are included in the database; however, regional chapters of a national organisation are not added individually to the database. Independent regional patient organisations are also included in the database.

Patient organisations on non-rare diseases who also deal with rare forms of common diseases are included if no specific organisation exists.

 

 

Clinical Trials

Sources

 

Inclusion criteria

Clinical trials included on Orphanet are interventional studies aiming to evaluate a drug as treatment/prevention for a rare disease.

A clinical trial that is found in the database needs to meet Health Canada's regulatory requirements.

Non-therapeutic clinical studies and therapeutic pre-clinical studies are not included.

 


Registries & Biobanks

Sources

  • Online searches
  • Personal contacts through participation in conferences
  • Contact form submitted on Orphanet

 

Inclusion criteria

The following resources are included:

  • Patient Registry: Any kind of systematic registry of clinical data for clinical research on a rare disease or a group of diseases, governed by an identified body

 

  • Biobank: Any kind of systematic, open-for-collaboration register of biological specimen for clinical research with a clear orientation toward the field of rare diseases

 

  • Mutation database: A systematic data collection on gene mutations described as responsible for a rare disease (or group of rare diseases) with an online interface, governed by an identified body

 

 

Research Projects

Sources

  • CIHR funding decision database
  • Patient associations
  • Personal contacts through participation in conferences
  • Contact form submitted on Orphanet 

 

Inclusion criteria

Ongoing and unpublished research projects explicitly focusing on a rare disease or group of rare diseases, funded  by a funding body (public or private, for or not-for -profit) with a scientific committee (after competitive evaluation) are included.





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Legal noticeContact us — Last updated on: 17-03-29