1. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases
- Author
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Paul Landais, Claude Messiaen, Viviane Jeanbat, Valérie Cormier-Daire, David Lapidus, Laurène Courouve, Kim-Hanh Le Quan Sang, Amélie Ruel, Caroline Michot, Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Laboratoire d'Epidémiologie [Bourg La Reine], Cemka-eval [Bourg La Reine], LapidusData [Oklahoma City, USA], Aide à la Décision pour une Médecine Personnalisé - Laboratoire de Biostatistique, Epidémiologie et Recherche Clinique - EA 2415 (AIDMP), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Laboratoire de Biostatistique, Epidémiologie clinique, Santé Publique Innovation et Méthodologie [CHU Nîmes] (BESPIM), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), This work was supported by grants from Clementia Pharmaceuticals Inc., Montreal, Canada., BMC, BMC, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé ( LIMICS ), Université Paris 13 ( UP13 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] ( MaMEA Necker ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Aide à la Décision pour une Médecine Personnalisé - Laboratoire de Biostatistique, Epidémiologie et Recherche Clinique - EA 2415 ( AIDMP ), Université Montpellier 1 ( UM1 ) -Université de Montpellier ( UM ), Biostatistique, Epidémiologie clinique, Santé Publique, Informations Médicales [CHU Nîmes] ( BESPIM ), and Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes )
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Adult ,Male ,0301 basic medicine ,European level ,medicine.medical_specialty ,Adolescent ,Databases, Factual ,Epidemiology ,[SDV]Life Sciences [q-bio] ,lcsh:Medicine ,computer.software_genre ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Administrative database ,Prevalence ,Humans ,Medicine ,Pharmacology (medical) ,Young adult ,Child ,Genetics (clinical) ,Severely disabling ,[ SDV ] Life Sciences [q-bio] ,Database ,business.industry ,Research ,lcsh:R ,General Medicine ,Myositis ossificans ,Data bases ,medicine.disease ,Rare genetic diseases ,3. Good health ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,Myositis Ossificans ,Fibrodysplasia ossificans progressiva ,Female ,France ,business ,computer ,030217 neurology & neurosurgery ,Record linkage - Abstract
International audience; AbstractBackgroundFibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France by probabilistic record-linkage of 2 national databases: 1) the PMSI (Programme de médicalisation des systèmes d’information), an administrative database that records all hospitalization activities in France and 2) CEMARA, a registry database developed by the French Centres of Reference for Rare Diseases.ResultsUsing a capture-recapture methodology to adjust the crude number of patients identified in both data sources, 89 FOP patients were identified, which results in a prevalence of 1.36 per million inhabitants (CI95% = [1.10; 1.68]). FOP patients’ mean age was 25 years, only 14.9% were above 40 years, and 53% of them were males. The first symptoms – beside toe malformations- occurred after birth for 97.3% of them. Mean age at identified symptoms was 7 years and above 18 years for only 6.9% of patients. Mean age at diagnosis was 10 years, and above 18 years for 14.9% of the patients. FOP patients were distributed across France.ConclusionsDespite the challenge of ascertaining patients with rare diseases, we report a much higher prevalence of FOP in France than in previous studies elsewhere. We suggest that efforts to identify patients and confirm the diagnosis of FOP should be reinforced and extended at both national and European level.
- Published
- 2016
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