Zentrum für Nervenheilkunde, Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Universitätsmedizin Rostock, Rostock, Germany.
BMC Psychiatry. 2013 Dec 19;13:339. doi: 10.1186/1471-244X-13-339.
Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.
METHODS/DESIGN: EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years.
The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients.
The ClinicalTrials.gov identifier is NCT01711606.
脆性 X 综合征（FXS）是由 X 染色体上的 FMR1 基因突变引起的，是最常见的遗传性智力障碍和自闭症谱系障碍。然而，德国 FXS 患者的特征和管理方面缺乏综合数据。
方法/设计：EXPLAIN 是一项前瞻性、观察性、纵向注册研究，采用非概率抽样方法。它收集患者特征、治疗干预、心理社会参数（包括家庭成员和照顾者的参数）、照顾者和患者的生活质量、照顾者负担以及卫生经济学参数（如住院时间）的数据。该研究设计旨在包括来自德国约 50 个使用精神科医生、儿科医生、神经科医生和其他相关专家的门诊护理中心的 300 名患者的数据。该研究于 2013 年 3 月启动。患者将至少随访两年。
该注册研究有望提供德国 FXS 患者特征和管理方面急需的数据。它还将允许与其他国家进行比较，并能够根据这些患者的管理现行指南进行差距分析。
ClinicalTrials.gov 标识符为 NCT01711606。
