wp2: patient registries. main achievements …2018/04/16 · d2.12 pilot registry for capturing...

WP2: PATIENT REGISTRIES. MAIN ACHIEVEMENTS AND CHALLENGES

D o m e n i c a Ta r u s c i o & R D - C o n n e c t C o l l e a g u e s

16 May 2018

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ISS (CNMR) Italy (WP2 Leader)AMU, CCG, CNAG, CNND, CUNI, EHDN, ELIXIR (in particularDTL/ELIXIR-NL & ELIXIR) EURORDIS, FTELE, ISCIII, KI, LUMC, Med Uni Graz, MURDOCH, NIH-ORDR, OPHG, PC, PCB, UMCG, UNEW, UPD-7, UU, UULM

Acknowledgments

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WP2: databases/patient registries

Harmonise and standardise databases and patient registries for RD by collaborating internationally to implement common registry infrastructure and data elements across a federated system.

Collect and provide accurate, quality controlled patient data for natural history studies, identification of study participants and pharmacovigilance.

Provide well characterised and stratified patient cohorts for personalised therapies and translational research, in particular -omics research.

DATA SHARING

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WP2: databases/patient registries

T a s k 2 . 1 : M a p e x i s t i n g r e g i s t r y i n f r a s t r u c t u r e a n d e v a l u a t e d a t a b a s e s / r e g i s t r i e s a g a i n s t s t a n d a r d s a n d b e s t p r a c t i c e .

T a s k 2 . 2 : E s t a b l i s h a D a t a b a s e s a n d R e g i s t r i e s C o r e I m p l e m e n t a t i o n G r o u p

T a s k 2 . 3 : C r e a t e o n l i n e s e a r c h a b l e c a t a l o g u e o f d a t a b a s e s a n d r e g i s t r i e s

Task 2 . 4 : O n t o l o g i e s & C o m m o n D a t a E l e m e n t s ( C D E s )

T a s k 2 . 5 : D e v e l o p p i l o t r e g i s t r y f o r c a p t u r i n g c l i n i c a l d a t a o n E U R e n O m i c s a n d N e u r o m i c s p a t i e n t s w i t h o u t a g e n e t i c d i a g n o s i s

T a s k 2 . 6 : D e v e l o p a n a r c h i t e c t u r e t o a l l o w i n t e r o p e r a b i l i t y w i t h N I H O R D R G R D R t o s h a r e w o r l d w i d e d e - i d e n t i f i e d p a t i e n t r e g i s t r y d a t a .

T a s k 2 . 7 : D e v e l o p t r a i n i n g m a t e r i a l s a n d a n o n l i n e “ r e g i s t r i e s t o o l k i t ” f o r n e w d a t a b a s e s a n d r e g i s t r i e s , a n d h o l d t r a i n i n g w o r k s h o p s / c o u r s e s

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List of WP2 Deliverables

D2.01 Report on existing databases/registries M12 D2.02 Core implementation group (CIG) M18 D2.03 Online searchable catalogue of database/ registries M18 D2.04 Annual update of online catalogue of database/registries M24 D2.05 Report on registry common data elements and standardised coding systems M24 D2.06 SOPs for "undiagnosed“ RD cases M24 D2.07 Training material and registry toolkit M24 D2.09 Report on global unique identifier (RD-ID) M30 D2.10 Annual update of online catalogue of database/registries M36 D2.11 SOPs for collecting, storing and retrieving data M36 D2.12 Pilot registry for capturing clinical data on patients without a genetic diagnosis M36 D2.13 Report on Interoperability measures M36 D2.14 Training material and registry toolkit M36 D2.16 Annual update of online catalogue of database/registries M48 D2.17 Training material and registry toolkit M48 D2.19 Annual update of online catalogue of database/registries M60 D2.20 Training material and registry toolkit M60 D2.21 Report on sustainability options M60

D2.23 Annual update of online catalogue of database/registries M72

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Annual update of online catalogue of database/registries

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An inventory of existing registries/databases : information from ORPHANET, EPIRARE, HQIP, EURORDIS, Treat NMD, CORDIS, E-RARE,NIH, the Registry of Patient Registries

Annual update of online catalogueof database/registries

The online catalogue is developed usingthe open source Liferay® portal system

D2.01

D2.03

ID-Cards were created for a list of 97 pioneering RD registries: Neuromics, registries dealing with renal diseases, registries from CIG members and Patientcrossroads registries

D2.04

D2.10 standardized procedure for theautomatic update of the diseasematrix and all others data, throughapplication programming interfaces(APIs).

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Data import and the integration of ORPHADATA in the ID-Card catalogue for the auto-completion of disease name and codes in the DM User Guide

Registry & Biobank Finder Classification of ID-Cards into disease areas based on the

European Reference Networks (ERNs)

Videotutorials: how to navigate the system and how to create an ID-Card for your registry and/or biobank

D2.16

D2.19

Registries with complete DM (by N of cases included)

Annual update of online catalogueof database/registries

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Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M,

Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D.

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.

2018, Eur J Hum Genet

Task 2.3: Create online searchable catalogue of databases and registries

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Annual update of online catalogue ofdatabase/registries

1. increase the communication and dissemination2. increase the response rate and update of the DM of invited registries3. establish a direct integration between registries and biobanks

month

D2.23

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◻ EUROPEAN JOINT PROGRAMME COFUND ON RARE DISEASES WP11 will build on and scale up existing catalogs(Orphanet, BBMRI, RDConnect Biobank and Registry Finder, JRC’s ERDRI and ELIXIR bio.tools)

◻ BBMRI-ERIC Incorporate into BBMRI catalogue of resources

Future challenges

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Task 2.1 Evaluate databases/registries

against standards and best practice

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Task 2.1 Evaluate databases/registries against standards and best practice

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 setting-up

- the model of evaluation includes not only data quality evaluation (completeness, validity, timeless, usefulness, access history logs, duplicate records) but the total quality of the registry as a the whole system

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Methodology Model of quality management of Registries

Partial quality

Total qualityTotal quality of a registryinvolves activities starting from the establishment of the registry governance, identification of the right data sources, development of Standardized Case Report Form (CRF), construction of a suitable CentralDatabase Infrastructure, production of data quality and to the capillar dissemination ofa quality information

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Main achievements

◻ Tool for checking the quality of registries

◻ Recommendations for Improving the Quality of Rare Disease Registries

Experts including rappresentative of Patients Organisations: Yllka Kodra, Jérôme Weinbach, Alessio Coi, Manuel Posada-de-la-Paz, S, LydieLemonnier, David van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, Virginie Bros-Facer, S. Faisal Ahmed, Marieke Van Meel, Daniel Renault, Rainaldvon Gizycki, Veronica Popa, S. Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti , Estrella Lopez, Fabrizio Bianchi, Heimo Müller, Robert Reis, Anna Ambrosini Yaffa R. Rubinstein, HannsLochmüller and Domenica Taruscio

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To support the forthcoming activities of European Reference Networks(ERNs) on RD. According to the Directive 2011/24/EU, one main aim ofERNs is to “reinforce research (and), epidemiological surveillance likeregistries”

EuRRECa project (Registry for Endo-ERN), funded by EC◻ Ensure that standardized coding systems, ontologies and classification of

endocrine conditions are included and implemented in the Core Endocrine Registry and comply with current direction of disease classifications in Europe and beyond

◻ Provide guidance on the core minimum dataset that will be incorporated into the Core Endocrine Registry and will allow interoperability with other registries beyond the field of endocrinology

◻ Appraise the quality and standards of interoperability in existing disease registries

◻ Develop a check list that guides Working Groups for developing new disease registries

Future challenges

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M24

Task 2.7: Develop training materials and an online

“registries toolkit” for new databases and

registries, and hold training workshops.

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Intl. Summer School on: “RARE DISEASE AND ORPHAN DRUG REGISTRIES” Rome September, 2014

PPT presentations of the International Summer Schoolavailable on-line

M24

Task 2.7: Develop training materials and an online “registries toolkit” for new databases and registries, and hold training workshops.

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3rd EpiRare International Workshop: Rare Disease and Orphan Drug Registries, Rome, November 2014

1st RD-Connect Bring Your Own Data meeting,Rome, November 2014

M36

1st Edition 2014


The RD-Connect Linked Data and Ontology Task Force

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M36

RD-Connect Registry and Biobank Meeting, BYOD2Rome, July 2015 (last day was reserved for a software engineers meeting)

3rd International Summer School on: “Rare Disease and Orphan DrugRegistries” Rome, September 2015

Rd-Connect workshop: data linkage and ontologiesRome, September 2015

Training materials developed available on-line


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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.

M48


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M48

Course: Managing and Integrating Life Science InformationUnder the auspices of the Dutch Bioinformatics & Systems Biology Research SchoolUtrecht, The Netherlands, December 2015

Workshop/training: “Including biobanks & registries in the RD-Connect platform” (During RD-Connect Annual meeting)Barcelona, Spain, March 2016

Workshop: “Next generation registries: going FAIR, going Gold”Rome, Italy, July 2016

Workshop 6 – FAIR Data and Data Stewardship(at 15th European Conference on Computational Biology, ECCB, 2016)The Hague, The Netherlands, September, 2016

4th International Summer School on: “Rare Disease and Orphan Drug Registries” Rome, Italy, September 2016

RD-Connect BYOD Workshop to Link Rare Disease Registries Rome, Italy, September 2016

Training materials developed from M37 to M48


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M60

✓9th International Semantic Web Application and Tools 4 Life Science, Conference. Amsterdam, NL, December 2016

✓FAIR Data and Data Stewardship tutorialDuring the 9th International SWAT4LS Conference 2016 Amsterdam, TheNetherlands, December 2016

✓Third IRDiRC Conference, Paris, France, February 2017

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

✓3rd conference on ERNs, Vilnius, March 2017

✓ELIXIR All Hands Meeting, Rome, Italy, March 2017

✓Bioinformatics & Systems Biology 2017 conferenceLunteren, The Netherlands April 2017


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M60

✓ RD-ACTION Workshop Co-hosted by DG SANTE: Using standards and embedding good practices to promote interoperable data sharing in ERNs Brussels, April, 2017

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

✓ ESHG 2017 Conference, 50th Anniversary, Copenhagen, May 2017

✓ 5th International Summer School Rare Disease & Orphan Drug Registries, Rome Italy, September 2017

✓ Bring Your Own Data, BYOD, to Link Rare Disease Registries, Rome,September, 2017


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✓10th International Semantic Web Application and Tools 4 Life Science, Conference. Rome, Italy, December 2017

✓Rare Lives – a photographic journey through the everyday life of people living with a rare disease European Parliament, Brussels, 28 February 2018

✓ERNs accelerating and improving diagnosis for rare diseases patients An ERN-BOND White Paper on Diagnosis EU Parliamentary Meeting hosted by Elena Gentile (S&D, IT) With the support of EURORDIS- Rare Diseases Europe European Parliament, Brussels, 28 February 2018

Our work is continuing…..

WORKSHOP Applying bioinformatics and data science competency frameworks to ELIXIR TrainingRome, Italy, December 2017

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

registries, and hold training workshops

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Wednesday April 18th h 11:00

The Future RD-Connect network and

collaborations

SAVE THE DATE

6th International Summer School Rare Disease &

Orphan Drug Registries, Including Bring Your Own

Data

Rome Italy, 10-14 September 2018



Our work is continuing…..

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Please visit Posters:

P.12 : FAIRification of rare disease patient registries

P.15 : Training activities to promote, create, and support International and FAIR rare disease registries

P.16 : Recommendations for improving the quality of rare disease registries

P.19 : The RD-Connect Registry & Biobank Finder: an online directory for sharing and integrating RD data and samples from RD registries and biobanks



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ISS (CNMR) Italy (WP2 Leader)AMU, CCG, CNAG, CNND, CUNI, EHDN, ELIXIR (in particular DTL/ELIXIR-NL &ELIXIR) EURORDIS, FTELE, ISCIII, KI, LUMC, Med UniGraz, MURDOCH, NIH-ORDR, OPHG, PC, PCB, UMCG, UNEW, UPD-7, UU, UULM

Acknowledgments

wp2: patient registries. main achievements …2018/04/16 · d2.12 pilot registry for capturing...

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