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Background <p>Rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiological data are still lacking and the extraction of data from the 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. The status of each diagnosis can be entered as ‘confirmed’, ‘probable’ or ‘under investigation’, as well as related families.</p> Objectives and methods <p>We aimed to test the reliability and quality of data for epidemiology by analyzing the data from a RD caused by autosomal dominant inheritance and with a univocal genetic diagnosis: TNF receptor-associated periodic syndrome (TRAPS). Patients were extracted on January 2023 and genetic files were retrieved from January to march 2023. All patients registered with a diagnosis of TRAPS were included.</p> Results <p>We identified 132 patients who fulfilled inclusion criteria, among which 31 were excluded (missing data and duplicates). We analyzed 101 patients and their sequences of <i>TNFSRSF1A</i> gene. Pathogenic and likely pathogenic variants were found in 69% of patients, while the remaining 31% may rather represent undetermined systemic autoinflammatory disease. The main pathogenic variant found was T50M (c.236 G &gt; T) while the main VUS was R92Q (c.362 G &gt; A). For the patients entered as ‘confirmed’, only 44% of them had a pathogenic/likely pathogenic variant. We identified eight different families. We therefore estimated the minimum prevalence of TRAPS in France: 1/1 156 711.</p> Conclusion <p>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.</p>

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Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)

  • 期刊论文

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  • 发表日期：

    2025年12月29日

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  • Adrien Subervie,
  • Inès Elhani,
  • Mathilde Labouret,
  • Sophie Georgin-Lavialle,
  • Eric Hachulla,
  • Alexandre Belot,
  • Arnaud Hot,
  • Pierre Quartier,
  • Achille Aouba,
  • Alexandra Desdoits,
  • David Saadoun,
  • Marie-Elise Truchetet,
  • Pascal Pillet,
  • Guilaine Boursier,
  • Ygal Benhamou,
  • Martine Grall-Lerosey,
  • Brigitte Granel,
  • Olivier Fain,
  • Viviane Queyrel,
  • Alain Lescoat,
  • Isabelle Melki,
  • Veronique Hentgen

摘要

Background

Rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiological data are still lacking and the extraction of data from the 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. The status of each diagnosis can be entered as ‘confirmed’, ‘probable’ or ‘under investigation’, as well as related families.

Objectives and methods

We aimed to test the reliability and quality of data for epidemiology by analyzing the data from a RD caused by autosomal dominant inheritance and with a univocal genetic diagnosis: TNF receptor-associated periodic syndrome (TRAPS). Patients were extracted on January 2023 and genetic files were retrieved from January to march 2023. All patients registered with a diagnosis of TRAPS were included.

Results

We identified 132 patients who fulfilled inclusion criteria, among which 31 were excluded (missing data and duplicates). We analyzed 101 patients and their sequences of TNFSRSF1A gene. Pathogenic and likely pathogenic variants were found in 69% of patients, while the remaining 31% may rather represent undetermined systemic autoinflammatory disease. The main pathogenic variant found was T50M (c.236 G > T) while the main VUS was R92Q (c.362 G > A). For the patients entered as ‘confirmed’, only 44% of them had a pathogenic/likely pathogenic variant. We identified eight different families. We therefore estimated the minimum prevalence of TRAPS in France: 1/1 156 711.

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.