Summary
The BNDMR (Banque Nationale de Données Maladies Rares) is a French National Rare Disease Data Registry offering healthcare professionals the ability to collect a minimum data set (MDS) common for all patients in addition to other different complementary data collections for specific care purposes via the BaMaRa application. BaMaRa allows the secure collection and deidentified centralization of medical data from all patients followed-up in BNDMR, based on a minimum data set (SDM-MR). SDM-MR is made up of 60 interoperable items and is routinely collected through BaMaRa in rare disease centers as part of care and discharged into BNDMR after deidentification and data reconciliation. Data access is regulated by a scientific committee. The BaMaRa-BNDMR infrastructure provides an administrative and epidemiological resource for rare diseases in France.
The BNDMR registry is composed of a cohort of more than 1.6 million French patients (adult and pediatric) having a diagnosed/suspected rare disease, seen at least once in expert centers, starting year 2010.
The BNDMR Registry allows the secondary reuse of de-identified health data that can be used in feasibility studies, descriptive studies, studies linked to the SNDS (French National Data Registry System of reimbursed acts and drugs) and other databases/registries.
(Rare disease registry)
[Patients residing in France, including overseas Frech territories. The BNDMR registry is composed of a cohort of more than 1.6 million French patients (adult and pediatric) having a diagnosed/suspected rare disease, seen at least once in expert centers, starting year 2010.]
(Patients with a confirmed or suspected rare disease)
The French National Registry of Rare Diseases (BNDMR) is updated on an ongoing basis.
This profile was developed for the B.R.I.D.G.E. TO DATA site on April 18, 2025.
Population Dynamics
(More than 1.6 million)
(More than 1.6 million)
(Not applicable as data are still being collected)
Demographic Data
(DOB mm/yyyy)
N/A
(This information is not available as it requires a specific query. Please contact database manager for details.)
(Male, Female, non-binary)
N/A
(This information is not available as it requires a specific query. Please contact database manager for details.)
Region, department, hospital, center
Date, month and year are captured (dd/mm/yyyy)
[Data collected in BaMaRa + verification by linkage to the French National Institute of Statistics and Economic Studies (INSEE - L’Institut national de la statistique et des études économiques) containing the list of people who have died]
Physician & Practioner Info
Diagnoses/Signs & Symptoms
While status is known, some of this data may be missing
(ORPHAcodes, maintained by Orphanet, is the only classification of diseases in which special diagnosis codes can be found for more than 6,000 rare diseases)
(Fœtus with parental rare disease/associated mutation)
ORPHAcode
There are “rare infectious diseases”; if the patient has a rare infectious disease, s/he will have an associated ORPHA code (e.g., ORPHA:645814 Primary pulmonary tuberculosis). But if the patient has a rare disease AND non-rare infectious disease (for example Meningitis), they do not have information on the infectious disease.
Procedures
(Not applicable)
Information is available on genetic investigation/test
Drug Information
Drug related to the rare disease only (nomenclature = Theriaque). Thériaque is an independent French drug database created by the Centre National Hospitalier d'Information sur le Médicament (CNHIM). It provides comprehensive information on approved and marketed drugs in France for healthcare professionals. One of the main characteristics of this database is that all the information has been structured in both coded form and in textual form. This feature allows computerized queries. For the purpose of their work, queries were made on the number of information fields related to therapeutic indications, posology and method of administration, contraindications, drug–drug interactions, special warnings and precautions for use (including pregnancy and lactation, effects on ability to drive and use machines, use in specific populations), undesirable effects and physicochemical incompatibilities. As drug–drug interaction and drug–drug physicochemical incompatibility generally involve two drugs, the result concerning the number of information fields was divided by two for these groups of information.
Visit: https://www.theriaque.org/ for more details.
The treatments that can be reported are only those for rare diseases from 2010 onward. These data may however be missing, do they do not apply a systematic review of missing data.
(Theriaque)
(Not applicable)
(Via Theriaque)
Biobanks
Genetic-PGx Data
Economic Data
(Not applicable)
(Not applicable)
The data are not available in the BNDMR registry, but thanks to a linkage with the SNDS these data can be retrieved. This operation requires submission of a protocol and authorization by the regulatory authorities.
Require regulatory submissions
SNDS database (French national database on reimbursed drugs and medical acts)
Validation & Linkage
Data are entered by physicians; validation of data is not systematic
Regulatory submissions are required for data linkage. Linkage is often done project by project, to the SNDS database (French national database on reimbursed drugs ans medical acts), for example.
Linkage to other databases could be evaluated.
OMOP conversion is ongoing.
Regulatory submissions are required for data linkage. Linkage is often done project by project, to the SNDS database (French national database on reimbursed drugs ans medical acts), for example.
Linkage to other databases could be evaluated.
Administrative Information
BNDMR - Banque Nationale de Données Maladies Rares
AP-HP
33 Boulevard de Picpus
75012 Paris
FRANCE
Contact : Solange ROUMENGOUS
Email 1: solange.roumengous@aphp.fr
Email 2: contact@bndmr.fr
Alban LERMINE
Email: alban.lermine@aphp.fr
[Assistance Publique-Hôpitaux de Paris (AP-HP)]
N/A
(Not applicable)
Doctors enter their patients' personal data into the BaMaRa application and therefore have access to their patients' data.
In the BNDMR registry, there are pseudonymized data which are accessible after approval by the BNDMR scientific committee which evaluates the legitimacy of the exploitation of the data that can be done by academica and industry.
Access to the data is free for experts from certified centers and paid when funding is granted or for manufacturers. For more information, please contact the database manager.
Tables and figures
For additional references please visit https://www.bndmr.fr/communications-scientifiques/publications-scientifiques/
1. Vantyghem MC, Nobécourt E, Vatier C, Bismuth E, Deshuille C, Elarouci N; French Lipodystrophy Reference Network; Jannot AS, Delemer B, Vigouroux C. Lipodystrophy and severe insulin resistance syndrome: epidemiological data from a French national rare diseases registry. Ann Endocrinol (Paris). 2025 Mar 31:101730.
2. Donadille B, Janmaat S, Mosbah H, Belalem I, Lamothe S, Nedelcu M, Jannot AS, Christin-Maitre S, Fève B, Vatier C, Vigouroux C. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet J Rare Dis. 2024 Apr 27;19(1):177.
3. Angin C, Mazzucato M, Weber S, Kirch K, Abdel Khalek W, Ali H, Maiella S, Olry A, Jannot AS, Rath A. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project. Orphanet J Rare Dis. 2024 Jan 27;19(1):28.
4. Mazzucato M, Pozza LV, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Orphanet Journal of Rare Diseases. 2023 Sep 4;18(1):267.
5. Pichon T, Messiaen C, Soussand L, Angin C, Sandrin A, Elarouci N, Jannot AS; BNDMR infrastructure team. Overview of patients' cohorts in the French National rare disease registry. Orphanet J Rare Dis. 2023 Jul 3;18(1):176.
6. Bodemer C, Soussand L, Sandrin A, Khatim A, Sauvestre A, Elarouci N, Jannot AS. French data on the epidemiology and expert healthcare network for epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2023 May;37(5):e597-e599.
7. Soussand L, Kuchenbuch M, Messiaen C, Sandrin A, Jannot AS, Nabbout R. Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet Journal of Rare Diseases. 2022 Dec 9;17(1):430.
8. Jannot AS, Messiaen C, Khatim A, Pichon T, Sandrin A, BNDMR Infrastructure Team. The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease. Journal of the American Medical Informatics Association. 2022 Mar 1;29(3):553-8.
9. Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J. Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases. Orphanet J Rare Dis. 2021 Nov 4;16(1):469.
10. Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. Orphanet J Rare Dis. 2021 Aug 4;16(1):345.
Database Contact
BNDMR - Banque Nationale de Données Maladies Rares
AP-HP
33 Boulevard de Picpus
75012 Paris
FRANCE
Contact : Solange ROUMENGOUS
Email 1: solange.roumengous@aphp.fr
Email 2: contact@bndmr.fr
Alban LERMINE
Email: alban.lermine@aphp.fr
Literature References
1. Vantyghem MC, Nobécourt E, Vatier C, Bismuth E, Deshuille C, Elarouci N; French Lipodystrophy Reference Network; Jannot AS, Delemer B, Vigouroux C. Lipodystrophy and severe insulin resistance syndrome: epidemiological data from a French national rare diseases registry. Ann Endocrinol (Paris). 2025 Mar 31:101730.
2. Donadille B, Janmaat S, Mosbah H, Belalem I, Lamothe S, Nedelcu M, Jannot AS, Christin-Maitre S, Fève B, Vatier C, Vigouroux C. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet J Rare Dis. 2024 Apr 27;19(1):177.
3. Angin C, Mazzucato M, Weber S, Kirch K, Abdel Khalek W, Ali H, Maiella S, Olry A, Jannot AS, Rath A. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project. Orphanet J Rare Dis. 2024 Jan 27;19(1):28.
4. Mazzucato M, Pozza LV, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Orphanet Journal of Rare Diseases. 2023 Sep 4;18(1):267.
5. Pichon T, Messiaen C, Soussand L, Angin C, Sandrin A, Elarouci N, Jannot AS; BNDMR infrastructure team. Overview of patients' cohorts in the French National rare disease registry. Orphanet J Rare Dis. 2023 Jul 3;18(1):176.
6. Bodemer C, Soussand L, Sandrin A, Khatim A, Sauvestre A, Elarouci N, Jannot AS. French data on the epidemiology and expert healthcare network for epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2023 May;37(5):e597-e599.
7. Soussand L, Kuchenbuch M, Messiaen C, Sandrin A, Jannot AS, Nabbout R. Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet Journal of Rare Diseases. 2022 Dec 9;17(1):430.
8. Jannot AS, Messiaen C, Khatim A, Pichon T, Sandrin A, BNDMR Infrastructure Team. The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease. Journal of the American Medical Informatics Association. 2022 Mar 1;29(3):553-8.
9. Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J. Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases. Orphanet J Rare Dis. 2021 Nov 4;16(1):469.
10. Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. Orphanet J Rare Dis. 2021 Aug 4;16(1):345.