CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)

Recruiting

• Conditions: Congenital Central Hypoventilation Syndrome

• Registration Number: NCT06554275
• Lead Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago

Brief Summary

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

Detailed Description

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.

Study Timeline

• Status Verified: 2024-08
• Study First Submitted: 2024-08-09
• Study First Submitted QC: 2024-08-13
• Study First Posted: 2024-08-15
• Study Start: 2024-09-01
• Last Update Submitted: 2024-12-03
• Last Update Posted: 2024-12-05
• Primary Completion: 2028-06-01
• Study Completion: 2028-08-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 175

Inclusion Criteria

Participants with a confirmed CCHS diagnosis (confirmed alveolar hypoventilation and PHOX2B mutation testing results), of all ages and genders, who are followed clinically.

Exclusion Criteria

An unconfirmed diagnosis of CCHS or unconfirmed PHOX2B mutation or not followed clinically

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Patient Quality of Life	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	Up to every 14 months	Caregiver burden will be assessed using the Zarit Burden Interview
Autonomic Symptom Profile	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	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.	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.

Trial Locations

Locations (1)

Ann & Robert H Lurie Children's Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States