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

CCHS SHARE: A Multi-center Longitudinal Natural History Study

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

Study Overview

• Status: Recruiting
• Conditions: Congenital Central Hypoventilation Syndrome

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 Type: Observational
• Enrollment (Estimated): 125

Contacts and Locations

• Study Contact: Name: Casey Rand, MSDS; Phone Number: 312-227-3300; Email: Crand@luriechildrens.org
• Study Contact Backup: Name: Erin Lonergan, MS; Phone Number: 312-227-3300; Email: Ersmith@luriechildrens.org

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Recruiting
      • Ann & Robert H Lurie Children's Hospital of Chicago
      • Contact: Erin Lonergan, MS; Phone Number: 312-227-3300; Email: Ersmith@luriechildrens.org
      • Contact: Casey M Rand, MSDS; Phone Number: 312-227-3300; Email: Crand@luriechildrens.org
      • Principal Investigator: Debra E Weese-Mayer, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Any individual with a confirmed CCHS diagnosis treated clinically at any of the participating sites.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patient Quality of Life	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)	Up to every 14 months
Caregiver Burden	Caregiver burden will be assessed using the Zarit Burden Interview	Up to every 14 months
Patient and Caregiver Sleep	Patient and caregiver sleep will be assessed using PROMIS Sleep Disturbance and Sleep-Related Impairment short forms	Up to every 14 months
Autonomic Symptom Profile	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.	Up to every 14 months
Characterize CCHS from a clinical perspective using standardized common data elements (CDEs) in the clinical setting.	CDEs will include key data points from standard of care assessments of respiratory and cardiovascular function, sleep, exercise capacity, neurocognition, and blood labs.	Up to every 14 months

Collaborators and Investigators

• Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago
• Collaborators: Great Ormond Street Hospital for Children NHS Foundation Trust; Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière; Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré
• Investigators: Principal Investigator: Debra E Weese-Mayer, MD, Ann & Robert H Lurie Children's Hospital of Chicago; Principal Investigator: Maxime Patout, MD, Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière; Principal Investigator: Martin Samuels, MD, Great Ormond Street Hospital-London (GOSH); Principal Investigator: Christophe Delclaux, MD, Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2024
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): August 31, 2028

Study Registration Dates

• First Submitted: August 9, 2024
• First Submitted That Met QC Criteria: August 13, 2024
• First Posted (Actual): August 15, 2024

Study Record Updates

• Last Update Posted (Actual): July 16, 2025
• Last Update Submitted That Met QC Criteria: July 11, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: Natural History; Rare Disease
• Additional Relevant MeSH Terms: Respiratory Tract Diseases; Respiration Disorders; Signs and Symptoms, Respiratory; Respiratory Insufficiency; Hypoventilation
• Other Study ID Numbers: 2024-7201; 1R01FD008217-01 (U.S. FDA Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No