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

NCT ID: NCT06554275

Last Updated: 2025-07-16

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 125 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-09-01
• Study Completion Date: 2028-08-31

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.

Conditions

Congenital Central Hypoventilation Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière

UNKNOWN

Sponsor Role: collaborator

Great Ormond Street Hospital for Children NHS Foundation Trust

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré

UNKNOWN

Sponsor Role: collaborator

Ann & Robert H Lurie Children's Hospital of Chicago

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Debra E Weese-Mayer, MD

Role: PRINCIPAL_INVESTIGATOR

Ann & Robert H Lurie Children's Hospital of Chicago

Maxime Patout, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière

Martin Samuels, MD

Role: PRINCIPAL_INVESTIGATOR

Great Ormond Street Hospital-London (GOSH)

Christophe Delclaux, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré

Locations

Ann & Robert H Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Casey Rand, MSDS

Role: CONTACT

Crand@luriechildrens.org

312-227-3300

Erin Lonergan, MS

Role: CONTACT

ersmith@luriechildrens.org

312-227-3300

Facility Contacts

Casey M Rand, MSDS

Role: primary

Crand@luriechildrens.org

312-227-3300

Erin Lonergan, MS

Role: backup

Ersmith@luriechildrens.org

312-227-3300

Other Identifiers

1R01FD008217-01

Identifier Type: FDA

Identifier Source: secondary_id

View Link

2024-7201

Identifier Type: -

Identifier Source: org_study_id