A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 30
- 主要终点
- Evaluation of disease presentation and the course of disease progression including the end stage of the disease in patients with MPS IIIB, assessed from medical history data obtained by retrospective chart review of deceased patients.
研究概览
简要总结
The objective is to perform a retrospective chart review to generate data to evaluate the clinical characteristics and course of disease progression of MPS IIIB.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The deceased patient was diagnosed with MPS IIIB as determined by either of the following:
- •Documented deficiency of NAGLU enzyme activity.
- •Documented functionally-relevant mutations in both alleles of the NAGLU gene.
- •Patient's parent or legal guardian provides informed consent (unless the requirement for informed consent is waived by local regulations).
- •The availability of pre-defined information in the patient's clinical chart:
排除标准
- •There are no exclusion criteria for this study.
结局指标
主要结局
Evaluation of disease presentation and the course of disease progression including the end stage of the disease in patients with MPS IIIB, assessed from medical history data obtained by retrospective chart review of deceased patients.
时间窗: N/A as this is a retrospective chart review of deceased patients
Data obtained by retrospective chart review will include medical history data including patient demographics, disease manifestation onset, clinical history, diagnostic tests and treatments for MPS IIIB, supportive interventions/medications, clinical chemistry and haematology results, anthropometric data, radiology results, and autopsy findings.
次要结局
未报告次要终点