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

NCT06554275 | Recruiting

• 2 other identifiers: 2024-72011R01FD008217-01
• Study Type: observational
• Target: 125
• Locations: 1 country
• Sites: 1

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

Conditions

Congenital Central Hypoventilation Syndrome

Keywords

Natural History; Rare Disease

Outcome Measures

Primary Outcomes (5)

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Ann & Robert H Lurie Children's Hospital of Chicago: lead
• Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital de la Pitié-Salpêtrière: collaborator
• Great Ormond Street Hospital for Children NHS Foundation Trust: collaborator
• Assistance Publique - Hôpitaux de Paris (AP-HP) : Hôpital universitaire Robert Debré: collaborator

Study Sites (1)

Ann & Robert H Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

RECRUITING

MeSH Terms

Conditions

Congenital central hypoventilation syndrome; Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• 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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Casey Rand, MSDS

CONTACT

312-227-3300; Crand@luriechildrens.org

Erin Lonergan, MS

CONTACT

312-227-3300; ersmith@luriechildrens.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 9, 2024
• First Posted: August 15, 2024
• Study Start: September 1, 2024
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): August 31, 2028
• Last Updated: July 16, 2025

Record last verified: 2025-07

Locations

US (1)