Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)
2 Centre Hospitalier Versailles, 78000 Le Chesnay, France
3 CHU Tenon [AP-HP]
4 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
5 RAISE - Centre de Référence pour les Maladies Rhumatologiques Auto-Immunes et Systémiques [CHU Necker]
6 AP-HP Hôpital universitaire Robert-Debré [Paris]
7 SU - Sorbonne Université
8 Centre de référence des maladies auto-immunes systémiques rares du Nord et Nord Ouest [CHRU Lille]
9 HCL - Hospices Civils de Lyon
10 CIRI-LYACTS - Activation et transduction du signal dans les lymphocytes - Lymphocyte activation and signaling [CIRI]
11 Hôpital Necker - Enfants Malades [AP-HP]
12 UPCité - Université Paris Cité
13 UNICAEN Santé - Université de Caen Normandie - UFR Santé
14 CHU Caen Normandie - CHU Caen Normandie – Centre Hospitalier Universitaire de Caen Normandie
15 I3 - Immunologie - Immunopathologie - Immunothérapie [CHU Pitié Salpêtrière]
16 CHU Pitié-Salpêtrière [AP-HP]
17 CHU de Bordeaux Pellegrin [Bordeaux]
18 CIC Bordeaux
19 CeRéMAIA - Hôpital André Mignot - Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles]
20 CHU Montpellier = Montpellier University Hospital
21 Service de Médecine Interne [CHU Rouen]
22 Service de pédiatrie médicale et médecine de l'adolescent [CHU Rouen]
23 C2VN - Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research
24 CHU Saint-Antoine [AP-HP]
25 CHU Nice - Centre Hospitalier Universitaire de Nice
26 Hôpital Sud [CHU Rennes]
27 Irset - Institut de recherche en santé, environnement et travail
- Fonction : Auteur
- PersonId : 1490233
- ORCID : 0009-0008-0175-453X
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- ORCID : 0000-0001-8890-7341
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- Fonction : Auteur
- Fonction : Auteur
- PersonId : 1241889
- ORCID : 0000-0003-1788-1898
- IdRef : 06971620X
Résumé
Abstract Background rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiology still presents obstacles and extracting data from public health system remains insufficient. In France, RD database set up in 2013 as Banque Nationale de Données de Maladies Rares (BNDMR). Patients’ information is provided by physician at each consultation and RD are classified according ORPHAcode. We aimed to test the reliability and quality of data for epidemiology by analyzing the data from a rare disease caused by autosomal dominant inheritance and with a univocal genetic diagnosis: TNF-related associated periodic syndrome (TRAPS). Results we extracted data in January 2023. We found 132 patients who fulfilled inclusion criteria and we excluded 31 patients (missing data and duplicates). We analyzed 101 sequences of TNFSRSF1A gene. Pathogenic and likely pathogenic variants were found in 59% of patients, while the remaining 41% should currently be classified as undetermined systemic autoinflammatory disease (USAID). We therefore estimated the minimum prevalence of TRAPS in France: 1/1 343 568. Conclusion In the French National Rare Disease Registry, the quality of data remains a challenge, especially in monogenic diseases where the knowledge of the pathogenicity of variants and the number of gene involved is constantly increasing. Our study suggests that the data exported from the BNDMR needs important data correction to allow reliable epidemiologic studies in these diseases. However, the database seems to be a good tool to identify the centers where RD patients are followed and could be recruited in specific studies after confirmation of the diagnosis.