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The French RD Registry
Paul Landais & Rémy Choquet
BNDMR, 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
Data
bases
Electronic
Health
Record
Case Report
Forms
Public Health
Epidemiology
Clinical trials
Cohorts
Patients support
of care
Source: BaMaRa 2013
Objectives
Systems
Domains
connectors connectors

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Data
Warehouse
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
BaMaRa
EHR
MDS
RaDiCo
connectors
BNDMR SNIIRAM
PMSI
SAE
DRESS
INSEE
Other
sources
BNDMR, PNMR2,
DGOS
Plan Hôpital Numérique,
DGOS,DGS,ARS
RaDiCo, investments for the
future, 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 network
BNDMR/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
I
I
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
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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
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