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The French RD Registry

Paul Landais & Rémy ChoquetBNDMR, Montpellier & Paris, France

Istituto Superiore di Sanità, March 5th, 2014

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A National data bank for rare diseases (BNDMR)dedicated to the centres of expertise

The French Data Repository for RD

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BNDMR : objectives

Objectives: Describe the demand for care Describe the offer of care Assess the adequacy of the supply to the demand Identify potentially eligible patients for clinical trials or

cohorts

Means: Implement a national database Supporting a minimum data set Set up an interoperability framework

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Domains, systems, objectives and interoperability

Epidemiology Care Research

Interoperability of systems and data

Databases

Electronic Health Record

Case Report Forms

Public HealthEpidemiology

Clinical trialsCohorts

Patients support of care

Source: BaMaRa 2013

Objectives

Systems

Domains

connectors connectors

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DataWarehouse

Systems

Interoperability

Domains

Infrastructures

BNDMR : National Data Bank for Rare Diseases; BaMaRa: Rare Diseases Database; EHR: Electronic Health Record; MDS : Minimum Data Set ; RaDiCo : Rare Disease Cohorts; SNIIRAM : Information system of the Health Care Insurance; PMSI : Activity based Payment Information System; SAE : Hospitals Annual Statistics ; DRESS : Direction for research, studies, evaluation and statistics of the Ministry of Health; INSEE : National Institute for statistics and economic studies. Source : Landais P, Choquet R, BaMaRa 2014

Epidemiology Care Research

BaMaRaEHR

MDS

RaDiCoconnectors

BNDMR SNIIRAMPMSISAE

DRESSINSEEOther

sources

BNDMR, PNMR2, DGOS

Plan Hôpital Numérique, DGOS,DGS,ARS

RaDiCo, investments for thefuture, INSERM, ANR

Interoperability framework

Interoperability of systems and data

connectors

BNDMR

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The French RD network

131 RD centers of expertise 501 RD centers of competence

54 laboratories for molecular diagnosis

Biological resources centers

12 RD registries

Ongoing research programs: 49 NRA ; 158 PHRC (hospital research

program); 227 clinical trials (106 academic, 121

industrial)

RDCE4

RDCE3

RDCE2

RDCE1

RDCE8

RDCE7

RDCE6

RDCE5

RDCE n+1

RDCE n

RDCE10

RDCE9

RDCE131

RDCE130

RDCE129

RDCE128

Sectors(RD)

I

II

III

n

….

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The French RD networkBNDMR/BaMaRa RaDiCo

Data: Minimum data set

All the patients

Data:Extensive longitudinal follow-up (Phenomics)

Subgroups of patients

t0 t1 t2 t3 t4 t5 t6

t0 t1 t2 t3 t4 t5 t6

t0 t1 t2 t3 t4

t0 t1 t2 t3 t4 t5 t6

t0 t1 t2 t3 t4 t5

Public health Research

RDCE4

RDCE3

RDCE2

RDCE1

RDCE8

RDCE7

RDCE6

RDCE5

RDCE n+1

RDCE n

RDCE10

RDCE9

RDCE131

RDCE130

RDCE129

RDCE128

Sectors(RD)

I

II

III

n

….

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An interoperability framework for RD

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National identifier

The identification of patients in the French health systems is subject to specific restrictions defined by the CNIL (National Committee for Informatics and Freedom).

Proposal for a national rare diseases unique and anonymous.

Generate a unique identifier for RD, according to the regulations in force, in order to reduce the number of duplicates (two IDs for a single patient) and possible collisions (same ID for two different patients).

Such an approach has already been carried out by the GRDR in the USA: the Globally Unique Identifier (GUID).

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Coding information

Definition of a minimum data set (MDS) common to all centers of expertise and for all rare diseases

It enables : Homogenizing data collection Identifying and following the active list of RD patients Accounting for the RD activity performed in a reference

center The minimum data set is standardized and available for

industrial suppliers of informatics solutions (without commercial use).

It is available at the European level.

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The French RD minimum data set

Consent (according to Regulatory recommendations) National anonymous patient Identifier (subject to validation by the

CNIL) Personal information Family information (if applicable) Vital status Care pathway Care activity Medical history Diagnosis Diagnosis confirmation Treatment (orphan drugs) Ante and neonatal course (if applicable) Research Structure of care

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MDS availability

The RD minimum data set is licensed under Creative Commons Attribution - Noncommercial use – Share under the same conditions 3.0 France (and 4.0 international)

For industrial suppliers of informatics solutions, the MDS use is allowed when an interface is also created in the host application to ensure the sending of data to the BNDMR.

Downloadable at http://bndmr.fr

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Flow & data exchange processes

Each center may have multiple databases to collect patients data in the active list.

Information can be divided into various applications: patient record, local, national or international registries, Excel file, paper.

Each database being technically different, the development of connectors with the BNDMR is each time different.

The BNDMR team publishes formats for data exchange enabling to communicate with the national base.

We accompany the reference centers to define the best strategy for implementing the process of exchange between internal applications and the BNDMR.

Security topics concerning patients’ data are discussed with the technical teams.

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An aid for coding RD

Linking Opendata for Rare Diseases

http://lord.bndmr.fr

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http://lord.bndmr.fr

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Inventory

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Call for RD cohorts

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Acknowledgments

To our collaborators of the BNDMR team: Y Fonjallaz, A de Carrara, M Maaroufi, C Messiaen, JP Necker, C Angin.

To the RaDiCo team: S Amselem, A Clement, J Weinbach. To the members of the network of the 131 RD Centers of

expertise To the members of the BNDMR Steering Committee To the DGOS and the DGS members in charge of the

PNMR2: D Péton-Klein, V Drouvot, P Dosquet To the staff of the clinical research unit of the University

Montpellier 1, EA 2415 and Nîmes university hospital

This program is funded by the French Ministry of Health