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法国国家罕见病注册中心患者队列概述。

Overview of patients' cohorts in the French National rare disease registry.

机构信息

French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP), 33 bld de Picpus, Paris, 75012, France.

Université Paris Cité, INRIA Paris, Centre de Recherche des Cordeliers, HeKA, Inserm, Paris, France.

出版信息

Orphanet J Rare Dis. 2023 Jul 3;18(1):176. doi: 10.1186/s13023-023-02725-2.


DOI:10.1186/s13023-023-02725-2
PMID:37400917
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10318625/
Abstract

In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature. Overall, 753,660 patients were recorded from 2007 to March 2022 including 493,740 with at least one rare disease diagnosis. Among these rare disease diagnoses, 1,300 diagnoses gathered between 10 and 70 patients and 792 gathered more than 70 patients, corresponding to more than one patient per million inhabitants. A total of 47 rare disease diagnoses with point prevalence or incidence reported in the literature below 1/1,000,000 have more than 70 patients in the BNDMR, suggesting larger BNDMR cohorts than expected from reported literature. As a conclusion, our national RD registry is a great resource to facilitate patients' recruitment in clinical research and a better understanding of RD natural history and epidemiology.

摘要

在法国,所有接受罕见病专家中心治疗的患者都必须在国家罕见病登记处(BNDMR)进行登记。该数据库收集了一组最小数据集,包括使用孤儿病命名法编码的诊断。截至 2022 年 3 月,该数据库共记录了 753660 名患者,其中 493740 名患者至少有一种罕见病诊断。在这些罕见病诊断中,有 1300 种诊断聚集了 10 到 70 名患者,792 种诊断聚集了超过 70 名患者,这意味着每百万居民中就有超过一名患者。在文献中报道的发病率或患病率低于 1/100 万的 47 种罕见病诊断,在 BNDMR 中都有超过 70 名患者,这表明 BNDMR 的患者群体比文献报道的要大。总之,我们的国家罕见病登记处是一个很好的资源,可以帮助患者在临床研究中招募,并更好地了解罕见病的自然史和流行病学。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6a/10318625/843c450e6611/13023_2023_2725_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6a/10318625/ddc3c0b9b389/13023_2023_2725_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6a/10318625/843c450e6611/13023_2023_2725_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6a/10318625/ddc3c0b9b389/13023_2023_2725_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf6a/10318625/843c450e6611/13023_2023_2725_Fig2_HTML.jpg

相似文献

[1]
Overview of patients' cohorts in the French National rare disease registry.

Orphanet J Rare Dis. 2023-7-3

[2]
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. 2021-8-4

[3]
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

J Am Med Inform Assoc. 2015-1

[4]
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study.

Orphanet J Rare Dis. 2017-5-19

[5]
The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease.

J Am Med Inform Assoc. 2022-1-29

[6]
The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Orphanet J Rare Dis. 2018-12-4

[7]
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.

Int J Environ Res Public Health. 2018-7-12

[8]
Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).

Contemp Clin Trials. 2010-7-8

[9]
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Eur J Hum Genet. 2020-2

[10]
RaDiCo, the French national research program on rare disease cohorts.

Orphanet J Rare Dis. 2021-10-29

引用本文的文献

[1]
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).

Eur J Neurol. 2025-9

[2]
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Orphanet J Rare Dis. 2025-3-11

[3]
Pareto-principle in rare disease education: assessing the representation of common rare diseases in medical education and coding systems.

Orphanet J Rare Dis. 2024-9-12

本文引用的文献

[1]
The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease.

J Am Med Inform Assoc. 2022-1-29

[2]
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.

Orphanet J Rare Dis. 2017-6-30

[3]
A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

J Am Med Inform Assoc. 2015-1

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