Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA
MIND Institute, University of California Davis Medical Center, Sacramento, California, USA.
J Med Genet. 2022 Dec;59(12):1165-1170. doi: 10.1136/jmedgenet-2022-108568. Epub 2022 Jun 14.
premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional mental and general health conditions that are not yet well-characterised. The International Fragile X Premutation Registry (IFXPR) was developed to facilitate and encourage research to better understand the premutation and its impact on human health, to facilitate clinical trial readiness by identifying and characterising diverse cohorts of individuals interested in study participation, and to build community and collaboration among carriers, family members, researchers and clinicians around the world. Here, we describe the development and content of the IFXPR, characterise its first 747 registrants from 32 countries and invite investigators to apply for recruitment support for their project(s). With larger numbers, increased diversity and potentially the future clinical characterisation of registrants, the IFXPR will contribute to a more comprehensive and accurate understanding of the fragile X premutation in human health and support treatment studies.
前突变胞嘧啶-鸟嘌呤-鸟嘌呤重复扩展等位基因在普通人群中较为常见，与神经退行性疾病（脆性 X 相关震颤/共济失调综合征）、生殖健康问题以及潜在的广泛的其他精神和一般健康状况有关，这些健康状况尚未得到很好的描述。国际脆性 X 前突变登记处（IFXPR）的开发旨在促进和鼓励研究，以更好地了解前突变及其对人类健康的影响，通过识别和描述对研究参与感兴趣的不同人群，为临床试验做好准备，并在全球范围内建立携带者、家庭成员、研究人员和临床医生之间的社区和合作。在这里，我们描述了 IFXPR 的开发和内容，描述了来自 32 个国家的最初的 747 名登记参与者，并邀请研究人员为他们的项目申请招募支持。随着参与者人数的增加、多样性的增加以及未来对登记参与者的临床特征的描述，IFXPR 将有助于更全面、更准确地了解脆性 X 前突变在人类健康中的作用，并为治疗研究提供支持。
