A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects With ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 8
- 主要终点
- Measurement of Plasma Inorganic Pyrophosphate (PPi) in Plasma
研究概览
简要总结
The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally. The study will prospectively gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes) of each disease.
详细描述
Study INZ701-003 is a multicenter, prospective, longitudinal, observational study to evaluate disease presentation, progression, and burden of illness in pediatric subjects aged 2 to <18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency. Subjects will receive care available at the clinical site along with additional assessments administered by the study team.
To participate in this study, subjects will give informed assent and parents/guardians will provide informed consent.
Subject participation will consist of a Screening Period and an Observation Period.
Assessments will be performed at each visit as indicated in the Schedule of Events.
During the Screening Period, assessments will be performed to determine eligibility.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals eligible to participate must meet all of the following inclusion criteria:
- •Must provide written consent of the legally authorized representative/caregiver and assent for subjects after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site
- •Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency
- •Male or female, aged 2 to <18 years
- •In the opinion of the Investigator, must be willing and able to complete all aspects of the study
- •Agree to provide access to relevant medical records
排除标准
- •Individuals who meet the following exclusion criterion will not be eligible to participate:
- •1. In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease
结局指标
主要结局
Measurement of Plasma Inorganic Pyrophosphate (PPi) in Plasma
时间窗: Up to 12 months
For each subject, blood plasma will be assayed for Plasma Inorganic Pyrophosphate (PPi), comparing the subjects baseline value over time
Determination of Arterial Calcification
时间窗: Up to 12 months
For each subject, occurrence of arterial calcification will be examined
Determination of Organ Calcification
时间窗: Up to 12 months
For each subject, occurrence of organ calcification will be examined
Determination of skeletal radiographs
时间窗: Up to 12 months
For each subject, skeletal radiographs will be obtained to determine skeletal abnormalities and will be compared to baseline
Determination of range of motion
时间窗: Up to 12 months
For each subject, aged 4 to \<18 years, range of motion will be assessed comparing to subjects baseline over time
次要结局
未报告次要终点