Banque Nationale de Données Maladies Rares (BNDMR): French National Registry of Rare Diseases (France)
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
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.