International Congenital Central Hypoventilation Syndrome (CCHS) Registry and CCHS SHARE

NCT03088020 | Recruiting

• 1 other identifier: 2013-15203
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The Center for Autonomic Medicine in Pediatrics (CAMP), in collaboration with leading CCHS clinicians, scientists, and patient advocacy groups around the world has built the first International CCHS (Congenital Central Hypoventilation Syndrome REDCap (Research Electronic Data Capture) Registry. This registry is an international collaboration to capture CCHS natural history data with CCHS patients and their physicians recruited from around the world. This registry is part of a CCHS natural history study that includes the CCHS Secure Health-hub Advancing Research Efforts (CCHS-SHARE), a natural history data platform shared with the broader CCHS research and patient community to house extensive longitudinal, de-identified data. Inclusion of registry data in CCHS-SHARE is optional. The purpose of this IRB-approved research study is to gain a better understanding of the natural history of CCHS, including the various clinical manifestations of CCHS with advancing age, and as related to each patient's specific PHOX2B mutation. With a better understanding of CCHS natural history, we will be able to better anticipate healthcare needs and to provide more accurate guidelines to healthcare providers world-wide in caring for patients with CCHS. The study aims to obtain detailed phenotypic information (information about health and well-being) on patients with CCHS and their families. Participation would require filling out a confidential survey that asks questions regarding phenotype and past medical history. Involvement in the project is completely voluntary and there is no compensation for taking part. However, this project will help us learn more about this disease, with the goal of advancing treatment.

Conditions

Congenital Central Hypoventilation Syndrome

Keywords

CCHS; PHOX2B; Paired-like Homeobox gene PHOX2B; autonomic nervous system dysregulation; control of breathing; Hirschsprung disease; neural crest tumors; neuroblastoma; ganglioneuroma; ganglioneuroblastoma; artificial ventilation; diaphragm pacing

Outcome Measures

Primary Outcomes (1)

• Longitudinal phenotype in CCHS

  Collection of longitudinal disease history in 400 CCHS patients

  20 years

Secondary Outcomes (2)

• Sensitive markers of disease progression by PHOX2B mutation/genotype

  20 years

• Integration of CCHS Registry and Global Rare Diseases Patient Registry (GRDR)

  20 years

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

CCHS patients with confirmed PHOX2B mutations

You may qualify if:

• Individuals with PHOX2B mutation-confirmed CCHS.

You may not qualify if:

• Individuals without PHOX2B mutation-confirmed CCHS.

Sponsors & Collaborators

• Debra Weese-Mayer: lead
• Northwestern University Feinberg School of Medicine: collaborator
• The Chicago Community Trust: collaborator

Study Sites (1)

Ann & Robert H. Lurie Children's Hospital of Chicago and the Stanley Manne Children's Research Institute

Chicago, Illinois, 60611, United States

RECRUITING

Related Links

• CAMP Website about International CCHS REDCap Registry

MeSH Terms

Conditions

Congenital central hypoventilation syndrome; Hirschsprung Disease; Neuroblastoma; Ganglioneuroma; Ganglioneuroblastoma

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Megacolon; Colonic Diseases; Intestinal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neuroectodermal Tumors, Primitive, Peripheral; Neuroectodermal Tumors, Primitive; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Glandular and Epithelial; Neoplasms, Nerve Tissue

Study Officials

• Debra E Weese-Mayer, MD

  Ann & Robert H Lurie Children's Hospital of Chicago

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Casey Rand, BS

CONTACT

312-227-3300; Crand@luriechildrens.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor of Pediatric Autonomic Medicine, Northwestern University Feinberg School of Medicine; Chief, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital and Stanley Manne Children's Research Institute

Study Record Dates

• First Submitted: March 17, 2017
• First Posted: March 23, 2017
• Study Start: June 24, 2013
• Primary Completion (Estimated): December 31, 2031
• Study Completion (Estimated): December 31, 2032
• Last Updated: August 9, 2024

Record last verified: 2024-08

Locations

US (1)