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RD-Connect WP2 UPDATE:

DATABASES/PATIENT REGISTRIES

Domenica Taruscio, ISS Team (Claudio Carta, Federico De Paulis

Sabina Gainotti, Yllka Kodra, Paola Torreri ) and WP2 Members

DATABASES/PATIENT REGISTRIES

Main achievements and challenges

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1) ID-Card and catalogue

2) Evaluate databases/registries

RD-Connect WP2 UPDATE:

DATABASES/PATIENT REGISTRIES

Main achievements and challenges

2) Evaluate databases/registries

against standards and best practice

3) Training

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Lead: ISS. Participants: ISCIII, NIH-ORDR, OPHG, MURDOCH, EURORDIS, UPD-7, AMU, UU

MAPPING and INTEGRATING registries MAPPING and INTEGRATING registries

into the IDinto the ID--Card catalogueCard catalogue

- inviting registries (e.g. invitation letter & scientific meetings)

Task 2.1 Map existing registry infrastructure and evaluate

databases/registries against standards and best practice

- inviting registries (e.g. invitation letter & scientific meetings)

- checking the literature, Orphanet's report on RD-registries and the

main RD registry networks and EU projects

� Active search in the literature of RD registry based studies � Curator pre-completes the Disease Matrix � Invitation sent to the registry owner with the request

to check and update the data, or "opt out" from the catalogue

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Task 2.3: Create online searchable catalogue

of databases and registries

Lead: ISS

Participants: ISCIII, CNAG, NIH-ORDR, PC, OPHG, MURDOCH, UPD-7

D2.16: Annual update of online catalogue of database/registriesD2.16: Annual update of online catalogue of database/registriesM48M48

1) updates to the software2) additional registries invited to join the system

March 2016 : 300 ID-Cards /90 with aggregated data available in the DM

April 2017: 350 ID-Cards in the online catalogue/

181 with aggregated data available

2) additional registries invited to join the system3) new version of the “User Guide ID catalogue”

released

April 2017: 350 ID-Cards in the online catalogue/ 181 with aggregated data available

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ID-Cards by countries

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ID-Cards by ERN

If a registry is part of an ERN : we add the ERN logo on its ID-CARD

if a registry is not - add the EUCERD categories

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� the integration of ORPHADATA in the ID-Card catalogue

for the auto-completion of disease name and codes in the DM is partially

completed (allowing auto-filling starting from first letters of disease name or from

first numbers of Orphacode but currently not complete the 2 fields together).

automated updates of the Disease Matrix from registries to the ID-Card

Software updates

� automated updates of the Disease Matrix from registries to the ID-Card

catalogue is being tested by RD-CONNECT registries in PatientCrossroads.

� improvement of the website: features, tools and functionality (in progress)

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1) ID-Card and catalogue

2) Evaluate databases/registries

against standards and best practice

RD-Connect WP2 UPDATE:

DATABASES/PATIENT REGISTRIES

Main achievements and challenges

against standards and best practice

3) Training

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Objectivedevelop guidance for the minimum requirements, recommendations and

standards necessary to maintain a high quality registry

Methodology- a group of experts, including rappresentative of Patients Organisations was

Task 2.1 Evaluate databases/registries

against standards and best practice

- a group of experts, including rappresentative of Patients Organisations was

setting-up :

Yllka Kodra, Manuel Posada-de-la-Paz, Estrella Lopez, S. Faisal Ahmed, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Jérôme

Weinbach, Paul Landais, Yaffa R. Rubinstein, Paola Torreri, Sabina Gainotti, Claudio Carta, Anna Ambrosini, Virginie Bros-Facer, Daniel

Renault, Rainald von Gizycki, Marieke Van Meel, Veronica Popa, LydieLemonnier and Domenica Taruscio

Please visit the Poster P.19

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�the establishment of the

registry governance

�identification of the right Data

Sources

�development of Standardized

Total quality of a registry:

involves several topics

Governance

Clinical data Patient data

(PROs)

Data source

Fee

db

ack

to

au

die

nce

Total quality

�development of Standardized

Case Report Form (CRF)

�construction of a suitable

Central Database Infrastructure

�production of data quality

� dissemination of a quality

information

Data recipient

Case Report Form

(CRF)

Central Database

infrastructure

Data quality

Quality information

Fee

db

ack

to

au

die

nce

Partial quality

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Topics Actions

Governance establishing leadership and management, ensure sustainability , involve

Patients, ethical issues, security, accessibility and privacy

Data source establish case definition; case inclusion/case exsclusion

Case Report Form (CRF)

and Standardisations

designing a good CRF: selection of a limited number of data elements

addressing the registry objectives, using Standards (coding system and

terminologies, reference ontologies, formats, classifications)

Central database

Infrastructure

selecting a secure-by-design Information System infrastructure,

technically accessible, including data storage, data management & data

validation tools

Data quality measuring and monitoring regularly the level of completeness, validity, Data quality measuring and monitoring regularly the level of completeness, validity,

timeless, usefulness, access history logs, duplicate records

Quality information developing a data analysis plan and interpretation; ensure data sharing

and availability of data, establish Findable, Accessible, Interoperable and

Reusable (FAIR) data including metadata

Documentation developing and maintain transparent documentation (high quality of clear

protocol study, Operating manual, SOPs, training manuals, regulatory

authorisations, patient consents...)

Training training of staff in the importance of data quality and provide training to

new registry managers, clinical training to standardize data collection

among data providers

Data quality audit providing independent systematic examination of data

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Tools on going

• Reccomendations by consensus withexperts

• Check list for internal / external audit• Quality indicators• Quality indicators• Training

i) Summer school on registries (18- 22 September 2017 : 1 day on Quality -19 September)ii) video tutorial

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1) ID-Card and catalogue

2) Evaluate databases/registries

against standards and best practice

RD-Connect WP2 UPDATE:

DATABASES/PATIENT REGISTRIES

Main achievements and challenges

against standards and best practice

3) Training

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D2.17: Training materials and registry toolkit, M37 to M48

Lead: ISS.Participants: All WP partners.

A year ago…..

Task 2.7: Develop training materials and an online “registries toolkit”

for new databases and registries, and hold training workshops.

ELIXIR All-Hands 2016: Elixir and RD-Connect workshop.

A common workshop between ELIXIR and RD-Connect members was

organised (8 March 2016) as a special session at the ELIXIR All-Hands

meeting in Barcelona (7-10 March 2016) to identify specific training needs

and to deliver specific knowledge to the rare disease community to raise

the capacity of the participants.

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�Course: Managing and Integrating Life Science Information

Under the auspices of the Dutch Bioinformatics & Systems Biology Research School

Utrecht, The Netherlands, 30 November - 4 December 2015

�Workshop/training: “Including biobanks & registries in the RD-Connect platform”

( During RD-Connect Annual meeting)

Barcelona, Spain, 9-11 March 2016

Task 2.7: Develop training materials and an online “registries toolkit”

for new databases and registries, and hold training workshops.

Barcelona, Spain, 9-11 March 2016

� Workshop: “Next generation registries: going FAIR, going Gold”

Rome, Italy, 27-29 July 2016

�Workshop 6 – FAIR Data and Data Stewardship

(at 15th European Conference on Computational Biology, ECCB, 2016)

The Hague, The Netherlands, September 3, 2016

�4th International Summer School on: “Rare Disease and Orphan Drug Registries”.

Rome, Italy, 26 – 28 September 2016

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Task 2.7: Develop training materials and an online “registries toolkit”

for new databases and registries, and hold training workshops.

�RD-Connect BYOD Workshop to Link Rare Disease Registries

Rome, Italy, 29-30 September 2016

� FAIR Data and Data Stewardship tutorial

During the 9th International SWAT4LS Conference 2016 Amsterdam, The Netherlands, 5 December

2016

Please visit Posters: Please visit Posters:

P.7 : Bring Your Own Data workshop a joint effort to promote and support FAIR RD-Registries

Carta C, Roos M, Jansen M, van Enckevort D, Wilkinson MD, Kaliyaperumal R, Cornet R, Torreri P, da Silva

Santos LOB, Kodra Y, Taruscio D.

P16: Boosting genotype-phenotype and translational research on rare diseases by establishing Findable,

Accessible, Interoperable and Reusable data resources through data linking technologies

Jacobsen A, van Enckevort D, Carta C, Thompson R, Szabo T, Thompson M, Ehrhart F, Kaliyaperumal R,

Sernadela P, Reihs R, da Silva Santos LOB, Wilkinson MD, Müller H, Oliviera JL, Evelo C, Taruscio D, 't Hoen PA

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Training materials developed from M37 to M48

✓Scientific aims, Sustainability , adaptability

✓Registries aims sustainability governance

✓Patient Unique Identifier

Task 2.7: Develop training materials and an online “registries toolkit”

for new databases and registries, and hold training workshops.

✓ Increasing the value of your registry part 2

✓ Ontologies for data integration

✓ Patients needs and experiences ✓Patient Unique Identifier

✓Data quality

✓Quality assurance

✓Data elaboration essentials

✓Publication accessibility informed consent

✓Increasing the value of your registry part 1

✓ Patients needs and experiences

✓ Ring14 International

✓ Italian database clinical and epidemiological

data of Paroxysmal Nocturnal Hemoglobinuria

✓ The italian Cystic Fibrosis patient registry

✓ Italian Duchenne and Becker Muscular

Dystrophy patients registry

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Examples of other related activities

- RD-Connect and ELIXIR-EXCELERATE -

✓Invited lecture, Fundación Ramon Areces, Madrid, November 2016

✓Invited lecture, Sample & Data Banking Course, Bologna, December 2016

✓9th International Semantic Web Application and Tools 4 Life Science, Conference. Amsterdam, NL, 5

Dec 2016

✓Third IRDiRC Conference, Paris, France, February 8-9 2017

✓Panel EURORDIS multi-stakeholder event, Brussels, February 22 2017Panel EURORDIS multi-stakeholder event, Brussels, February 22 2017

✓3rd conference on ERNs, Vilnius, 9 March 2017

✓ELIXIR All Hands Meeting, Rome, Italy, 21-23 March 2017

✓Bioinformatics & Systems Biology 2017 conference, Lunteren, The Netherlands 4-5 April 2017

✓RD-ACTION Workshop Co-hosted by DG SANTE: Using standards and embedding good practices to

promote interoperable data sharing in ERNs, Brussels, April 26-27, 2017

Coming soon, i.e. :

�E-Rare Data Sharing and Harmonization Workshop, Berlin, May 3-4, 2017

✓ESHG 2017 Conference, 50th Anniversary, Copenhagen, 27-30 May 2017

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Open to health professionals,

researchers, medical specialists, registry

curators, database managers and

representatives of patients associations

who are involved in or intend to

Task 2.7: Develop training materials and an online “registries toolkit”

for new databases and registries, and hold training workshops.

To promote and support FAIR RD Registries

who are involved in or intend to

establish a rare disease registry, mainly

inside a ERN.

This edition dedicated to ERNs.

We should have:

• a registry curator (clinician)

• a data manager or IT-expert

• an ePAG representative, patient,

or representative

Are you interested?

Send an e-mail to:

rareregistries-school@iss.it

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Thanks for

your

attention !