An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 23
- 试验地点
- 1
- 主要终点
- Physical Performance
研究概览
简要总结
Hypophosphatasia is a rare inherited metabolic disorder due to inactivating mutations of the ALPL-Gene. Particularly among adult patients, clinical manifestation exhibits a broad range of signs and symptoms, most commonly associated with musculoskeletal disabilities and compromised quality of life. Enzyme replacement therapy with Asfotase alfa (AA) is available and approved for patients with pediatric onset of the disease.
This single-center observational cohort study aims at collecting clinical routine data regarding the course treatment, quality of life and physical performance in patients treated with Asfotase alfa in line with the label for pediatric-onset hypophosphatasia.
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
- •Age ≥ 18 years at the time of enrollment
- •Clinical diagnosis of pediatric-onset HPP based on low ALP (age- and sex-adjusted) and/or genetic confirmation of ALPL mutation(s), and clinical symptoms consistent with HPP
- •Participant currently receiving commercial asfotase alfa treatment for HPP at the Orthopedic Institute of the Julius-Maximilians-University Würzburg, as per standard of care
- •Willingness to participate in the study
- •Signed informed consent
排除标准
- •Unwillingness / anticipated inability to attend further visits
- •Off-label treatment with asfotase alfa
- •Current participation in an Alexion Sponsored Trial
- •Experimental drug/treatment
结局指标
主要结局
Physical Performance
时间窗: 1 year of treatment compared to pre-treatment baseline
Use of assistive devices descriptive measure
Body composition
时间窗: 1 year of treatment compared to pre-treatment baseline
Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]
次要结局
- Health related quality of life(1 year of treatment compared to pre-treatment baseline)
- Laboratory evaluation(1 year of treatment compared to pre-treatment baseline)
- Safety assessment(1 year of treatment compared to pre-treatment baseline)
- Skeletal pathology(1 year of treatment compared to pre-treatment baseline)
- Bone Mineral Density(1 year of treatment compared to pre-treatment baseline)
研究者
Dr. Lothar Seefried
Head, Clinical Trial Unit, Orthopedic Department
Wuerzburg University Hospital