CCHS SHARE: A Multi-center Longitudinal Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 125
- 试验地点
- 1
- 主要终点
- Patient Quality of Life
研究概览
简要总结
The purpose of this study is to capture longitudinal natural history data in Congenital Central Hypoventilation Syndrome (CCHS). This will include capturing standardized clinical data from standard of care assessments at several CCHS referral centers. Funding source-FDA OOPD
详细描述
The natural history of a disease is how a disease progresses over time and impacts the lives of patients and their families. In Congenital Central Hypoventilation Syndrome (CCHS), as in all rare diseases, collecting enough information to understand disease natural history is challenging. Knowledge and data sharing is a key to overcoming this challenge. Investigators at Lurie Children's are collaborating with teams at other CCHS medical and research centers and patient advocacy groups to build a shared resource called the CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE). CCHS SHARE will advance knowledge of CCHS natural history and guide future research studies and clinical trials. The purpose of this study is to collect and store CCHS natural history data over the course of many years in CCHS SHARE. Collected information will include patient and family self-reports surrounding their health and its impact on daily life, information collected during standard clinical care (medical records), family history, and other related information from patients. Information in CCHS SHARE will be used for medical research to better understand CCHS and to develop new treatments.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.
排除标准
- •An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically
结局指标
主要结局
Patient Quality of Life
时间窗: Up to every 14 months
Patient reported outcome common data elements reflecting core aspects of CCHS will be captured using the Pediatric Quality of Life Inventory (PedsQL) and the 36-item Short Form Health Survey (SF-36)
Caregiver Burden
时间窗: Up to every 14 months
Caregiver burden will be assessed using the Zarit Burden Interview
Autonomic Symptom Profile
时间窗: Up to every 14 months
Validated measures of autonomic function will be captured including data elements from COMPASS-31 and a patient-reported clinical and disease-specific outcomes symptomatology questionnaire relating to CCHS.
Patient and Caregiver Sleep
时间窗: Up to every 14 months
Patient and caregiver sleep will be assessed using PROMIS Sleep Disturbance and Sleep-Related Impairment short forms
Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.
时间窗: Up to every 14 months
CDEs will include key data points from standard of care assessments of respiratory and cardiovascular function, sleep, exercise capacity, neurocognition, and blood labs.
次要结局
未报告次要终点