Ann & Robert H Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611, United States
Location status: Recruiting
Location contact
Casey M Rand, MSDS
CONTACT
Debra E Weese-Mayer, MD
PRINCIPAL_INVESTIGATOR
Erin Lonergan, MS
CONTACT
Recruiting
NCT Number: NCT06554275
CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
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
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Primary outcomes
-
Patient Quality of Life
Time frame: 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
Time frame: Up to every 14 months
Caregiver burden will be assessed using the Zarit Burden Interview
-
Patient and Caregiver Sleep
Time frame: Up to every 14 months
Patient and caregiver sleep will be assessed using PROMIS Sleep Disturbance and Sleep-Related Impairment short forms
-
Autonomic Symptom Profile
Time frame: 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.
-
Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.
Time frame: 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.
Study contacts
Contact information is provided by the study sponsor or research team.
Casey Rand, MSDS
CONTACT
Erin Lonergan, MS
CONTACT
Sponsors and collaborators
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust
- Groupe Hospitalier Pitie-Salpetriere
- Hopital Universitaire Robert-Debre
Registry information
Official study title
CCHS SHARE: A Multi-center Longitudinal Natural History Study
Important dates
- Study start
- 2024
- Primary completion
- 2028
- Study completion
- 2028
- First posted
- Aug 15, 2024
- Registry last updated
- Jul 16, 2025
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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