10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Claude Messiaen; Caroline Racine; Ahlem Khatim; Louis Soussand; Sylvie Odent; Didier Lacombe; Sylvie Manouvrier; Patrick Edery; Sabine Sigaudy; David Geneviève; Christel Thauvin-Robinet; Laurent Pasquier; Florence Petit; Massimiliano Rossi; Marjolaine Willems; Tania Attié-Bitach; Pierre-Henry Roux-Levy; Laurent Demougeot; Lilia Ben Slama; Paul Landais; Bruno Leheup; Martine Doco-Fenzy; Céline Poirsier; Marta Spodenkiewicz; Lola Lissy; Audrey Lannoy; Elise Shaefer; Salima El Chehadeh; Jeanne Amiel; Cyril Mignot; Judith Melki; Sandra Whalen; Marilyn Irène Lackmy; Benoit Funalot; Gilles Morin; Marion Gérard; Nicolas Gruchy; Arnaud Molin; Annick Toutain; Stéphanie Arpin; Sophie Blesson; Médéric Jeanne; Bertrand Isidor; Marie Vincent; Mathilde Nizon; Sandra Mercier; Dominique Bonneau; Estelle Colin; Alban Ziegler; Séverine Audebert-Bellanger; Radka Stoeva; Florence Demurger; Julien Thevenon; Christine Francannet; Baptiste Troude; Isabelle Perthus; Damien Haye; Patrick Collignon; Brigitte Gilbert-Dussardier; Frédéric Bilan; Mattieu Egloff; Gwenaël Le Guyader; Pascaline Letard; Elisabeth Sarrazin; Anna-Gaëlle Giguet-Valard; Léna Damaj; Mélanie Fradin; Alinoe Lavillaureix; Nolwenn Jean-Marçais; Godelieve Morel; Chloé Quelin; Sophie Naudion; Marine Legendre; Julien Van-Gils; Caroline Rooryck-Thambo; Odile Boute; Anne Dieux; Catherine Vincent-Delorme; Jamal Ghoumid; Clémence Vanlerberghe; Roseline Caumes; Cindy Colson; Luisa Marsili; Antoine Wyrebski; Laurence Bellengier; Françoise Houdayer; Audrey Putoux; Tiffany Busa; Florence Riccardi; Chantal Missirian; Patricia Blanchet; Christine Coubes; Emmanuelle Haquet; Lucile Pinson; Jacques Puechberty; Constance Wells; Yline Capri; Laurence Perrin; Sandrine Passemard; Lyse Ruand; Sophie Nambot; Julian Delanne; Sébastien Moutton; Arthur Sorlin; Daphné Lehalle; Aurore Garde; Anne-Sophie Jannot; Christine Binquet; Arnaud Sandrin; Alain Verloes; Laurence Faivre

doi:10.1186/s13023-021-01957-4

Back

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Journal article

Open access

Peer reviewed

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, …

Orphanet Journal of Rare Diseases, Vol.16(1)

04/08/2021

DOI: https://doi.org/10.1186/s13023-021-01957-4

Abstract

Abstract Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care.

Files and links (2)

url

Find in HALView

url

https://doi.org/10.1186/s13023-021-01957-4View

Published (Version of record) Open

Metrics

1 Record Views

See more details

Details

Title: 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Creators - without role: Claude Messiaen - Assistance Publique – Hôpitaux de Paris
Caroline Racine - Centre Hospitalier Universitaire Dijon Bourgogne
Ahlem Khatim - Assistance Publique – Hôpitaux de Paris
Louis Soussand - Assistance Publique – Hôpitaux de Paris
Sylvie Odent - Centre Hospitalier Universitaire de Rennes
Didier Lacombe - Bordeaux Population Health
Sylvie Manouvrier - Université de Lille
Patrick Edery - Hôpital Femme Mère Enfant
Sabine Sigaudy - Hôpital de la Timone
David Geneviève - Centre Occitanie-Montpellier
Christel Thauvin-Robinet - Centre Hospitalier Universitaire Dijon Bourgogne
Laurent Pasquier - Centre Hospitalier Universitaire de Rennes
Florence Petit - Centre Hospitalier Universitaire de Lille
Massimiliano Rossi - Hôpital Femme Mère Enfant
Marjolaine Willems - Université de Montpellier, Institut des Neurosciences de Montpellier - INM
Tania Attié-Bitach - Hôpital Necker-Enfants Malades
Pierre-Henry Roux-Levy - Université de Bourgogne
Laurent Demougeot
Lilia Ben Slama
Paul Landais - Université de Nîmes
Bruno Leheup - Hôpital d'Enfants
Martine Doco-Fenzy - Centre Hospitalier Universitaire de Reims
Céline Poirsier - Hôpital Maison Blanche
Marta Spodenkiewicz - Centre Hospitalier Universitaire de Reims
Lola Lissy - Centre Hospitalier Universitaire de Reims
Audrey Lannoy - Hôpital Maison Blanche
Elise Shaefer - Hôpital d'Hautepierre
Salima El Chehadeh
Jeanne Amiel - Hôpital Necker-Enfants Malades
Cyril Mignot - Sorbonne Université
Judith Melki - Bicêtre Hospital
Sandra Whalen - Hôpital d'Enfants
Marilyn Irène Lackmy - Centre Hospitalier Universitaire Pointe-à-Pitre
Benoit Funalot - Hôpital Intercommunal de Créteil
Gilles Morin - Centre Hospitalier Universitaire Amiens-Picardie
Marion Gérard - Centre Hospitalier Universitaire de Caen
Nicolas Gruchy - Université de Caen Normandie
Arnaud Molin - Université de Caen Normandie
Annick Toutain - Centre Hospitalier Universitaire de Tours
Stéphanie Arpin - Centre Hospitalier Universitaire de Tours
Sophie Blesson - Centre Hospitalier Universitaire de Tours
Médéric Jeanne - Centre Hospitalier Universitaire de Tours
Bertrand Isidor - Centre Hospitalier Universitaire de Nantes
Marie Vincent - Centre Hospitalier Universitaire de Nantes
Mathilde Nizon - Centre Hospitalier Universitaire de Nantes
Sandra Mercier - Centre Hospitalier Universitaire de Nantes
Dominique Bonneau - Centre Hospitalier Universitaire d'Angers
Estelle Colin - Centre Hospitalier Universitaire d'Angers
Alban Ziegler - Centre Hospitalier Universitaire d'Angers
Séverine Audebert-Bellanger - Centre Hospitalier Régional Universitaire de Brest
Radka Stoeva - Centre Hospitalier du Mans
Florence Demurger - Centre hospitalier Bretagne Atlantique
Julien Thevenon - Centre Hospitalier Universitaire de Grenoble
Christine Francannet - Centre Hospitalier Universitaire de Clermont-Ferrand
Baptiste Troude - Centre Hospitalier Universitaire de Clermont-Ferrand
Isabelle Perthus - Centre Hospitalier Universitaire de Clermont-Ferrand
Damien Haye - Centre Hospitalier Universitaire de Nice
Patrick Collignon
Brigitte Gilbert-Dussardier - Centre Hospitalier Universitaire de Poitiers
Frédéric Bilan - Centre Hospitalier Universitaire de Poitiers
Mattieu Egloff - Centre Hospitalier Universitaire de Poitiers
Gwenaël Le Guyader - Centre Hospitalier Universitaire de Poitiers
Pascaline Letard - Centre Hospitalier Universitaire de Poitiers
Elisabeth Sarrazin
Anna-Gaëlle Giguet-Valard
Léna Damaj - Centre Hospitalier Universitaire de Rennes
Mélanie Fradin - Centre Hospitalier Universitaire de Rennes
Alinoe Lavillaureix - Centre Hospitalier Universitaire de Rennes
Nolwenn Jean-Marçais - Centre Hospitalier Universitaire de Rennes
Godelieve Morel - Centre Hospitalier Universitaire de Rennes
Chloé Quelin - Centre Hospitalier Universitaire de Rennes
Sophie Naudion - Centre Hospitalier Universitaire de Bordeaux
Marine Legendre - Centre Hospitalier Universitaire de Bordeaux
Julien Van-Gils - Centre Hospitalier Universitaire de Bordeaux
Caroline Rooryck-Thambo
Odile Boute - Centre Hospitalier Universitaire de Lille
Anne Dieux - Centre Hospitalier Universitaire de Lille
Catherine Vincent-Delorme - Centre Hospitalier Universitaire de Lille
Jamal Ghoumid - Centre Hospitalier Universitaire de Lille
Clémence Vanlerberghe - Centre Hospitalier Universitaire de Lille
Roseline Caumes - Centre Hospitalier Universitaire de Lille
Cindy Colson - Centre Hospitalier Universitaire de Lille
Luisa Marsili - Centre Hospitalier Universitaire de Lille
Antoine Wyrebski - Centre Hospitalier Universitaire de Lille
Laurence Bellengier - Centre Hospitalier Universitaire de Lille
Françoise Houdayer - Hôpital Femme Mère Enfant
Audrey Putoux - Hospices Civils de Lyon
Tiffany Busa - Hôpital de la Timone
Florence Riccardi - Hôpital de la Timone
Chantal Missirian - Hôpital de la Timone
Patricia Blanchet - Centre Hospitalier Universitaire de Montpellier
Christine Coubes - Centre Hospitalier Universitaire de Montpellier
Emmanuelle Haquet - Centre Hospitalier Universitaire de Montpellier
Lucile Pinson - Centre Hospitalier Universitaire de Montpellier
Jacques Puechberty - Centre Hospitalier Universitaire de Montpellier
Constance Wells - Centre Hospitalier Universitaire de Montpellier
Yline Capri - Hôpital Robert-Debré
Laurence Perrin - Assistance Publique – Hôpitaux de Paris
Sandrine Passemard - Université Paris Cité
Lyse Ruand - Assistance Publique – Hôpitaux de Paris
Sophie Nambot - Centre Hospitalier Universitaire Dijon Bourgogne
Julian Delanne - Centre Hospitalier Universitaire Dijon Bourgogne
Sébastien Moutton - Centre Hospitalier Universitaire Dijon Bourgogne
Arthur Sorlin - Centre Hospitalier Universitaire Dijon Bourgogne
Daphné Lehalle - Centre Hospitalier Universitaire Dijon Bourgogne
Aurore Garde - Centre Hospitalier Universitaire Dijon Bourgogne
Anne-Sophie Jannot
Christine Binquet
Arnaud Sandrin - Assistance Publique – Hôpitaux de Paris
Alain Verloes - Hôpital Robert-Debré
Laurence Faivre - Hôpital d'Enfants
Publication Details: Orphanet Journal of Rare Diseases, Vol.16(1)
Identifiers: 9938482809311
Academic Unit: Institut des Neurosciences de Montpellier - INM
Language: English
Resource Type: Journal article
Local Fields: hal-04943636