A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 48
- 试验地点
- 12
- 主要终点
- Survival
研究概览
简要总结
This study aims to characterize the natural history of patients with severe perinatal or infantile 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
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Parent(s) or legal guardian(s) must provide written informed consent prior to data abstraction, unless all of the following apply:
- •The patient is deceased; AND
- •The responsible IRB/IEC/REB does not require informed consent per a review of their documented local policies for collecting retrospective data on patients who are deceased; AND
- •Written confirmation is received from the responsible IRB/IEC/REB confirming that the abstracted data can be analyzed and used to support regulatory filings by the Sponsor
- •Patient must have a documented diagnosis of HPP as indicated by 1 or more of the following:
- •Documented ALPL gene mutation(s)
- •Serum alkaline phosphatase (ALP) below the age-adjusted normal range and either plasma pyridoxal 5'-phosphate (PLP) or urinary phosphoethanolamine (PEA) above the upper limit of normal
- •Serum ALP below the age-adjusted normal range and HPP-related radiographic abnormalities on X-ray
- •Patient must have onset of signs of HPP prior to 6 months of age and have documentation of 1 or more of the following characteristics of perinatal and infantile HPP:
- •Respiratory compromise (up to and including respiratory failure) requiring institution of respiratory support measure(s), requiring medication(s) for management of symptom(s), and/or associated with other respiratory complications (e.g., pneumonia(s), respiratory tract infection(s))
- •Pyridoxine (vitamin B6)-responsive seizures
- •Rachitic chest deformity
排除标准
- •Patients will be excluded from study participation if they have 1 or more of the following exclusion criteria:
- •Patient received treatment with asfotase alfa at any time prior to data abstraction
- •Patient has clinically significant other disease
- •Both living and deceased patients will be considered for study participation
结局指标
主要结局
Survival
时间窗: Retrospective data collected on or before the data of abstraction.
Overall survival is defined as the time from birth to time of death.
次要结局
- Invasive Ventilator-free Survival Time(Retrospective data collected on or before the date of abstraction.)