A Retrospective and Prospective Natural History of Genetic Vasculopathies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs).
研究概览
简要总结
This study will combine retrospective review of medical records from patients with ACTA2 and ongoing collection of clinical data using standardized instruments and intervals on an observational basis from patients with ACTA2.
Patients in cohorts 1-3 will be asked to attend clinic visits in person per the schedule of events. At minimum, the medical records of patients with ACTA2 will be reviewed to record data on aspects of the disease, including disease characteristics and developmental milestones. The study is planned to enroll a total of 100 patients: 7 in cohort 1, 7 in cohort 2, and the remaining in cohorts 3 and 4.
This study is planned to study patients for at least 3 years with the option to continue as long as possible for assessment of disease progression. During their continued study participation, as patients age, they may move into the next cohort. Beyond 3 years the duration of the study with be determined by availability of funding from sponsors.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 29 Days 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed ACTA2 pathogenic variant
- •Available medical records since birth that permit documentation of disease characteristics and developmental milestone
- •Have two parents and/or legal guardians who are English speaking and are able to read, understand, and sign the informed consent
- •Able to tolerate travel to study site
排除标准
- •Patient does not meet the inclusion criteria
- •Patient is currently pregnant
结局指标
主要结局
Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs).
时间窗: 3 Years
2.1 Assess vascular and non-vascular disease progression over 3 years. 2.2 Compare the trajectory between clinical rating scales and patient-reported outcomes. 2.3 Correlate disease progression by individual and MSMDS-specific scale with other variables (age at diagnosis, sex, genetic variance, surgeries, etc).
Determine whether remote assessments with wearable technology systems are comparable with quantitative performance measures obtained in Aim 2
时间窗: 3 Years
Use the Actigraphy wearable technology system in conjunction with a video consult to remotely assess gait, limb movement and exercise performance.
Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression
时间窗: 3 Years
1.1 Develop patient surveys and identify retrospective/existing clinical data sources for aggregation, harmonization, and analyses of outcomes and biomarkers to be compared to existing published data. 1.2. Identify modifiers of symptom progression in patients with MSMDS. 1.3 Correlate the degree of disease progression by systems in 40 patients (cross-sectional study) and construct an MSMDS Rating Scale to evaluate disease severity and progression in children. 1.4 Create case report forms based on previously known and developed surveys in 1.1. to allow for standardized prospective data collection (Outcome 2).
次要结局
未报告次要终点
研究者
Patricia Musolino, MD PhD
Dr. Patricia L. Musolino, MD PhD, Principle Investigator
Massachusetts General Hospital