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

Ann & Robert H Lurie Children's Hospital of Chicago

Status: Enrolling

Conditions: Congenital Central Hypoventilation Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT06554275

1R01FD008217-01 (U.S. FDA Grant/Contract)

2024-7201

Details and patient eligibility

About

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

Full 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.

Enrollment: 175 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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