A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 114
- 试验地点
- 7
- 主要终点
- Change from baseline in the total body burden of heterotopic ossification as assessed by the optimal imaging modality (low-dose whole body CT [excluding head]).
研究概览
简要总结
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, severely disabling disease characterized by painful, recurrent episodes of soft tissue swelling (flare-ups) that result in abnormal bone formation in muscles, tendons, and ligaments. Flare-ups begin early in life and may occur spontaneously or after soft tissue trauma, vaccinations, or influenza infections. Recurrent flare-ups progressively restrict movement by locking joints leading to cumulative loss of function and disability. This 3-year, non-interventional, two-part, natural history study is designed to gain insight into total body HO, FOP disease progression, the impact of FOP on subjects' physical functioning, and clinical features and biomarkers that may be useful in the diagnosis and monitoring of disease progression. This natural history study will also provide important information to inform the design of subsequent interventional trials.
详细描述
This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. A thorough baseline examination will be performed to determine the current status of disease in each subject. In Part A, two imaging modalities assessed total body HO at baseline, and the optimal method (low-dose whole body CT scan [excluding head]) will be employed in Part B for the balance of the study. Progression will be assessed at annual in-clinic visits (ie, at Months 12, 24, and 36) at which time the procedures conducted at the baseline visit will be repeated. In addition, site personnel will telephone subjects midway between the annual visits (ie, at Months 6, 18, and 30).
During the 36-month follow-up period, at least one new flare-up (with a maximum of one per year) will be carefully studied. An in-clinic visit will be performed within 14 days following the subject's identification of his/her flare-up. Additional visits at Day 42 and Day 84 (after the initial flare-up clinic visit) will be performed. An additional future visit may be scheduled after Day 84 at the discretion of the Principal Investigator (PI) for prolonged flare-ups. However, subjects with an eligible flare-up may elect to participate in an ongoing Clementia interventional study rather than continue in this natural history study.
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
- — 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects clinically diagnosed with classical FOP with documented R206H mutation or believed to carry the R206H mutation
排除标准
- •Participation in an interventional clinical research study within the 4 weeks prior to enrollment
结局指标
主要结局
Change from baseline in the total body burden of heterotopic ossification as assessed by the optimal imaging modality (low-dose whole body CT [excluding head]).
时间窗: Month 36
次要结局
- Change from baseline in physical function as assessed by range of motion.(Month 12, Month 24, and Month 36)
- Change from baseline in patient-reported use of assistive devices and adaptations.(Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36)
- Change from baseline in a patient-reported measure of physical and mental health (PROMIS Global Health Scale).(Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36)
- Flare-up progression as assessed by the change from baseline in pain and swelling at the flare-up site.(Flare-up initiation, Flare-up Days 42 and 84)
- Flare-up progression as assessed by the change from baseline biomarkers.(Flare-up initiation, Flare-up Days 42 and 84)
- Flare-up progression as assessed by the change from baseline in physical function as assessed by range of motion.(Flare-up initiation, Flare-up Days 42 and 84)
- Flare-up progression as assessed by the change from baseline in a patient-reported outcome measure of physical and mental health (PROMIS Global Health Scale).(Flare-up initiation, Flare-up Days 42 and 84)
- Change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]).(Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36)
- Change from baseline in biomarkers.(Month 12, Month 24, and Month 36)
- Flare-up progression as assessed by the change from baseline in heterotopic ossification at the flare-up site.(Flare-up initiation, Flare-up Days 42 and 84)
- Flare-up progression as assessed by the change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]).(Flare-up initiation, Flare-up Days 42 and 84)