Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Course of disease
研究概览
简要总结
Observational study comprising prospective follow up as well as retrospective chart review in order to evaluate the longitudinal course of the disease in XLH patients with a specific focus on functional impairment, physical performance and complications associated with the disease or respective treatment.
详细描述
This is an observational / non-interventional study in order to assess the longitudinal course of XLH including disease related burden of disease and functional impairment. This is accomplished by both prospective follow up of affected patients as well as retrospective chart review. Evaluation conducted as per clincal routine and specifically evaluated as part of this study will include
- baseline documententation / demographic (as obtained from medical records)
- general data on XLH-disease specific medical history
- physical examination results
- functional assessments
- technical assessments
- quality of life / questionnaires
- laboratory evaluations
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female, aged ≥ 18 years, inclusive, at the time of enrollment
- •Diagnosis of X-linked Hypophosphatemia confirmed by
- •documented PHEX mutation in either the patient, or in a directly related family member
- •positive family history of XLH and symptoms of the disease or
- •Phosphaturia + elevated serum levels of c-term FGF23 or iFGF23 and symptoms of the disease
- •Written informed consent
排除标准
- •Suspected of confirmed diagnosis of another phosphate wasting disorder
结局指标
主要结局
Course of disease
时间窗: retrospective and up to 48 months from enrollment
To document and assess the natural course of disease, associated symptoms and functional impairment in adult patients with XLH.
次要结局
- Laboratory values(retrospective and up to 48 months from enrollment)
- Organ / tissue specific health issues(retrospective and up to 48 months from enrollment)
- Comorbidities and medical treatment(retrospective and up to 48 months from enrollment)
- Functional deficits and mobility constraints(retrospective and up to 48 months from enrollment)
- Safety and tolerability of treatment(retrospective and up to 48 months from enrollment)
- Quality of life(retrospective and up to 48 months from enrollment)