A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 32
- 主要终点
- Radiographic Global Impression of Change - RGI-C
研究概览
简要总结
The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP.
详细描述
Hypophosphatasia (HPP) is a life-threatening, genetic, and ultra-rare metabolic disease characterized by defective bone mineralization and impaired phosphate and calcium regulation that can lead to progressive damage to multiple vital organs, including destruction and deformity of bones, profound muscle weakness, seizures, impaired renal function, and respiratory failure. There are no approved disease-modifying treatments for patients with this disease. There is also limited data available on the natural course of this disease over time, particularly in patients with the juvenile-onset form.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Documented informed consent unless patient is deceased
- •Patients with Juvenile-onset HPP, defined as documented onset of first signs/symptoms at ≥ 6 months to ˂18 years
- •Documented diagnosis of HPP as indicated by skeletal manifestations and low alkaline phosphatase or genotyping
排除标准
- •Received treatment with asfotase alfa in the ENB-006-09 study and/or currently enrolled in the ENB-008-10 study
- •Received other treatment and/or intervention to treat HPP up to 15 years old
- •Other clinically significant disease
结局指标
主要结局
Radiographic Global Impression of Change - RGI-C
时间窗: Between Baseline (earliest available, complete, and readable x-ray set) and all available, readable post-Baseline x-ray sets during the period of patients' aged 5 to 15 years, inclusive.
The RGI-C scale is a 7-point ordinal scale that is used to evaluate musculoskeletal characteristics of HPP (eg, metaphyseal fraying, demineralization of distal metaphyses). The scores range from -3 (severe worsening) to +3 (complete or near-complete healing).
次要结局
- Change in Weight Z-score From Baseline to Last Assessment(Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while Post baselines are time points after Baseline during the defined age period.)
- Change in Height Z-score From Baseline to Last Assessment(Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while post baselines are time points after Baseline during the defined age period.)