An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 226
- 试验地点
- 1
- 主要终点
- Height
研究概览
简要总结
Through observation of patients with X-linked hypophosphatemic rickets/osteomalacia (XLH) for up to 10 years, the study intends to collect data that allow achievement of the following objectives:
- To determine medical characteristics of the disease and the disease process
- To determine physical and psychological burden on patients as well as economic burden
- To assess the efficacy and safety of the treatment of the disease
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients must meet at least one of the following:
- •Documented PHEX gene mutation
- •Documented PHEX gene mutation in at least one family member with X-linked genetic relationship
- •Documented FGF23 >30 pg/mL
- •Typical clinical findings of rickets/osteomalacia
- •Written informed consent obtained from patients aged >=18 years or from parents or legally acceptable representatives of patients aged <18 years
排除标准
- •Participation in any clinical study (trial) at the time of informed consent
- •Any patient whose participation in the study is considered inappropriate by the investigator or the subinvestigator
结局指标
主要结局
Height
时间窗: After enrollment, patients will be observed annually or every 2 years for up to 10 years.
Height in centimeters
Timed Up and Go Test(TUGT)
时间窗: After enrollment, patients will be observed every 2 years for up to 10 years.
The time required for each patient to do the TUGT will be recorded: Stand up from sitting in a chair, walk 3 meters, turn around, walk back, and sit down.
The 6-Minutes Walking Test
时间窗: After enrollment, patients will be observed annually for up to 10 years.
The 6-Minutes Walking Test performed according to International Guidelines, will be measured as distance in meters.
次要结局
- Fracture(10 years)
- Radiography(After enrollment, patients will be observed annually or every 2 years for up to 10 years.)
- Nephrocalcinosis(After enrollment, patients will be observed annually or every 2 years for up to 10 years.)