Abstract：
BACKGROUND: Autosomal dominant osteopetrosis (ADO) is a rare sclerotic bone disease characterized by impaired osteoclast activity, resulting in high bone mineral density and skeletal fragility. The full phenotype and disease burden on patients\' daily lives has not been systematically measured.
OBJECTIVE: We developed an online registry to ascertain population-based data on the spectrum and rate of progression of disease and to identify relevant patient centered outcomes that could be used to measure treatment effects and guide the design of future clinical trials.
METHODS: Cross-sectional data from participants with osteopetrosis were collected using an online REDCap-based database.
METHODS: Thirty-four participants with a confirmed diagnosis of ADO, aged 4-84 years.
METHODS: Participants aged 18 years and older completed the PROMIS 57, participants aged 8 to 17 years completed the PROMIS Pediatric 49, and parents of participants aged <18 years completed the PROMIS Parent Proxy 49.
RESULTS: Based on the PROMIS 57, relative to the general population, adults with ADO reported low physical function and low ability to participate in social roles and activities, and high levels of anxiety, fatigue, sleep problems, and pain interference. Daily pain medications were reported by 24% of the adult population. In contrast, neither pediatric participants, nor their parent proxy reported a negative impact on health-related quality of life.
CONCLUSIONS: Data from this registry demonstrate the broad spectrum of ADO disease severity and high impact on health-related quality of life in adults with ADO.
OBJECTIVE: We developed an online registry to ascertain population-based data on the spectrum and rate of progression of disease and to identify relevant patient centered outcomes that could be used to measure treatment effects and guide the design of future clinical trials.
METHODS: Cross-sectional data from participants with osteopetrosis were collected using an online REDCap-based database.
METHODS: Thirty-four participants with a confirmed diagnosis of ADO, aged 4-84 years.
METHODS: Participants aged 18 years and older completed the PROMIS 57, participants aged 8 to 17 years completed the PROMIS Pediatric 49, and parents of participants aged <18 years completed the PROMIS Parent Proxy 49.
RESULTS: Based on the PROMIS 57, relative to the general population, adults with ADO reported low physical function and low ability to participate in social roles and activities, and high levels of anxiety, fatigue, sleep problems, and pain interference. Daily pain medications were reported by 24% of the adult population. In contrast, neither pediatric participants, nor their parent proxy reported a negative impact on health-related quality of life.
CONCLUSIONS: Data from this registry demonstrate the broad spectrum of ADO disease severity and high impact on health-related quality of life in adults with ADO.
摘要：
背景：常染色体显性骨症（ADO）是一种罕见的硬化性骨疾病，其特征是破骨细胞活性受损，导致高骨密度和骨骼脆性。尚未系统地测量患者日常生活的全部表型和疾病负担。
目的：我们开发了一个在线注册系统，以确定基于人群的疾病谱和进展率数据，并确定相关的以患者为中心的结局，可用于衡量治疗效果和指导未来临床试验的设计。
方法：使用基于REDCap的在线数据库收集石骨症患者的横断面数据。
方法：34名确诊为ADO的参与者，4-84岁。
方法：18岁及以上的参与者完成了PROMIS57，8至17岁的参与者完成了PROMIS儿科49，年龄<18岁的参与者的父母完成了PROMIS父母代理49。
结果：基于PROMIS57，相对于普通人群，患有ADO的成年人报告说身体机能低下，参与社会角色和活动的能力低下，和高度的焦虑，疲劳,睡眠问题,和疼痛干扰。24％的成年人每天报告止痛药。相比之下,都不是儿科参与者，他们的父母代理人也没有报告对健康相关生活质量有负面影响.
结论：来自该注册中心的数据表明ADO疾病的严重程度和对成人ADO患者健康相关生活质量的高度影响。
目的：我们开发了一个在线注册系统，以确定基于人群的疾病谱和进展率数据，并确定相关的以患者为中心的结局，可用于衡量治疗效果和指导未来临床试验的设计。
方法：使用基于REDCap的在线数据库收集石骨症患者的横断面数据。
方法：34名确诊为ADO的参与者，4-84岁。
方法：18岁及以上的参与者完成了PROMIS57，8至17岁的参与者完成了PROMIS儿科49，年龄<18岁的参与者的父母完成了PROMIS父母代理49。
结果：基于PROMIS57，相对于普通人群，患有ADO的成年人报告说身体机能低下，参与社会角色和活动的能力低下，和高度的焦虑，疲劳,睡眠问题,和疼痛干扰。24％的成年人每天报告止痛药。相比之下,都不是儿科参与者，他们的父母代理人也没有报告对健康相关生活质量有负面影响.
结论：来自该注册中心的数据表明ADO疾病的严重程度和对成人ADO患者健康相关生活质量的高度影响。
