The Patient Registry Working Group is chaired by Prof. Leo Schultze Kool from The Radboud university medical center in Nijmegen, The Netherlands.

Registries are necessary in all types of research and for epidemiological surveillance. As rare diseases are rare and patient numbers are therefore often limited, sharing of data is absolutely crucial.

The Patient Registry-WG aims to build rare vascular disease registries and to make already existing registries accessible by using the FAIR principles.

The FAIR data principles are a set of principles used to make data findable, accessible, interoperable and reusable (FAIR). They also provide the guidelines for good scientific data management and stewardship in order to maximize the use of valuable research data by the scientific community. In order to make data FAIR, the first step is to make data findable, by assigning a globally unique and persistent identifier to data/metadata. Next, one must describe data/metadata using ontologies and vocabularies and generating machine-readable data. A semantic model, that describes the relations between the concepts, can be made in order to create this machine-readable data. The accessibility of the data must be also well defined. Metadata can be made available on a FAIR Data Point, making it findable online. Finally, data must be reusable, meaning that it can be reproduced and reused, so it must be richly described and provide clear usage licenses and accurate information on its provenance.

Work Package on Patient Registry

Several RDWG specific registry projects are ongoing, including the pilot project: VASCERN VASCA FAIR Registry which is underway. The plan for VASCERN is to start with local registries where the structure (minimal dataset) and program used for each database is FAIR compatible and can be extended upon later. The metadata model has now been implemented on a server where 8 VASCA expert centers will have a registry on that server. The secure server is located in Amsterdam. Once the registry has been tested by the VASCA expert centers, it may be extended to include other RDWGs of VASCERN.

To keep up to date on the latest developments from the Patient Registry Working Group, please visit the Patient Registries page here

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NETHERLANDS

Radboud university medical center, Nijmegen, Netherlands

VASCERN VASCA European Reference Centre, Expert center for Hemangioma and Vascular Anomalies (Hecovan)

Registry WG Chair

Prof. Leo SCHULTZE KOOL
Interventional Radiologist

VASCA WG Co-Chair, VASCA Registry Lead

 

Pim KAMERLING
VASCA and PPL Registries Data Steward

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BELGIUM

Maria BAREA
ePAG Deputy Co-Chair for VASCA ePAG advocate for the Registry WG

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FRANCE

CHU de Lyon HCL, GH Est-Hôpital Femme Mère Enfant
Lyon, France

VASCERN HHT European Reference Centre, CRMR Rendu-Osler

Dr. Sophie DUPUIS-GIROD
Pediatrician and Geneticist

HHT WG Co-Chair, HHT Registry Lead

AP-HPHôpital Bichat-Claude Bernard, Paris, France

VASCERN HTAD European Reference Centre, CRMR MarfanSyndrome and related disorders, department of cardiology

Prof. Guillaume JONDEAU
Cardiologist

HTAD WG Co-Chair, HTAD Registry Lead

AP-HP, CHU Paris IdF Ouest, HEGP Hôpital Européen Georges Pompidou, Paris, France

VASCERN MSA European Reference Centre, Rare Vascular Diseases Reference Centre (CRMR)

Dr. Michael FRANK
Consultant Cardiologist

MSA WG Co-Chair, MSA vEDS Registy Lead

 

Prof. Xavier JEUNEMAITRE
Geneticist

Dr. Sonia GUEGUEN
Working with the HEGP team as the MSA registry Lead –  Rare Disease Cohorts (RaDiCo)
Director, Science & Operations at RaDiCo, which is coordinated by Inserm (the French Institut of Health and Medical Research)
Paris, France

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NETHERLANDS

Nij Smellinghe hospital, Drachten, The Netherlands

VASCERN PPL European Reference Centre, Expert Center for lymphovascular medecine

Dr. Robert J. DAMSTRA
Dermatologist

PPL WG Chair and PPL Registry lead

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