Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases

IF 1.6 4区医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-10-30 DOI:10.1016/j.ejmg.2023.104868

Ana Luisa Priego Zurita , Corinna Grasemann , Manila Boarini , Roland Chapurlat , Marina Mordenti , ERN BOND Working Group 5 , Muhammad Kassim Javaid , Natasha M. Appelman-Dijkstra

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Abstract

Background

knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.

Objective

to map existing bone and mineral conditions registries in Europe and their characteristics.

Methods

online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.

Results

sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.

Conclusions

There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.

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欧洲稀有骨骼和矿物状况的数据收集:登记和数据库的景观

了解罕见病的自然病史是改善治疗结果的必要条件。疾病登记可能在满足稀有骨骼和矿物质群体的这些未满足需求方面发挥关键作用。目的了解欧洲现有的骨和矿物状况登记及其特征。方法对注册表/数据库的使用情况及其特点进行在线调查。这项调查在欧洲罕见骨病参考网络(ERN BOND)的成员、骨和矿物状况领域的非欧洲罕见骨病参考网络专家以及患者组织之间传播。结果共收集卫生保健提供者(HCPs)的63份问卷和患者群体(pg)的10份问卷。ERN BOND成员的回应率为55%。在63名HCPs中，37名使用注册表申报。成骨不全(OI)是最常见的症状。我们绘制了3个国际登记处，都是针对特定疾病的。结论有必要开发一个通用的、高质量的罕见骨和矿物情况登记平台。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.