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International Congenital Central Hypoventilation Syndrome (CCHS) Registry

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ClinicalTrials.gov Identifier: NCT03088020
Recruitment Status : Recruiting
First Posted : March 23, 2017
Last Update Posted : August 22, 2022
Northwestern University Feinberg School of Medicine
The Chicago Community Trust
Information provided by (Responsible Party):
Debra Weese-Mayer, Ann & Robert H Lurie Children's Hospital of Chicago

Brief Summary:

The Center for Autonomic Medicine in Pediatrics (CAMP) has built the first International CCHS (Congenital Central Hypoventilation Syndrome REDCap (Research Electronic Data Capture) Registry. This registry is an international collaboration with CCHS patients and their physicians recruited from around the world.

The purpose of this IRB-approved research study is to gain a better understanding of the various clinical manifestations of CCHS with advancing age, and as related to each patient's specific PHOX2B mutation. With a better understanding of specific CCHS PHOX2B mutations and associated disease manifestations, 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. 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 devastating disease, with the goal of advancing treatment.

Condition or disease
Congenital Central Hypoventilation Syndrome

Detailed Description:

CCHS is a disorder characterized by alveolar hypoventilation with a control of breathing deficit, and symptoms of autonomic nervous system (ANS) dysregulation (ANSD). This study aims to develop a patient registry for CCHS, which will provide crucial insight into disease development, improving outcome in these children through improving early recognition of the disorder, understanding the phenotypic spectrum, and evolution of clinical course. Data will be stored in REDCap (Research Electronic Data Capture) system a secure web application designed exclusively to support data capture for research studies in a secure manner. The REDCap server is hosted securely at Northwestern University, behind a firewall, with virus protection, and using Secure Socket Layer (SSL) authentication to encrypt communication between a user and the server. Protected Health Information (PHI) will be labeled as such in the database and access to it will be restricted to the Principal Investigator (PI) and key personnel participating in the consent process and follow up contact of participants.

Participants in the International CCHS REDCap Registry will be identified and recruited from CAMP's registry of new, current, and past CCHS referrals, including CCHS patients referred for PHOX2B testing and/or consultation. Additionally, patients may also be recruited via the internet using emails, Facebook pages, and mailing lists for family groups. Anyone interested will be offered inclusion into the International CCHS Registry. Participants will be able to participate remotely, from their homes or locations where they have internet, phone, and computer access.

De-identified data collected through the REDCap registry will be de-identified and analyzed. Patients enrolled in this study will be offered participation in the NIH GRDR. This is an optional part of the study, and is not required for inclusion. The Global Rare Disease Registry (GRDR) is established by the NIH Office of Rare Disease Research. The goal of the GRDR is to establish a data repository of de-identified patient data, aggregated in a standardized manner, using Common Data Elements (CDEs) and standardized terminology. De-identification of patient's data will utilize the Global Unique Identifiers (GUID) system. Lurie Children's Hospital will retain ownership of all data shared with the GRDR. The de-identified data in the GRDR will be available to all investigators to enable analyses across many rare diseases and to facilitate various biomedical studies, including clinical trials, in pursuit of developing drugs and therapeutics to improve the healthcare and the quality of life for the many millions of people who are diagnosed with rare diseases.

Any patient agreeing to be part of the GRDR will have their data de-identified and this de-identified data exported and shared with the GRDR. These participants are also given the option to be contacted for participation in clinical trials. If this option is chosen, any researcher accessing de-identified information through the GRDR and planning to conduct a clinical trial will be allowed to contact the CAMP project coordinator to ask that patients fitting the profile of needed participants be contacted and offered inclusion. No de-identified information will be shared with researchers outside of CAMP, rather the CAMP project coordinator will contact identified patients fitting participation criteria to share contact information and details for the clinical trial. Interested patients will then be given to the option to contact researchers conducting clinical trials at their discretion.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry
Actual Study Start Date : June 24, 2013
Estimated Primary Completion Date : December 31, 2024
Estimated Study Completion Date : December 31, 2025

Primary Outcome Measures :
  1. Longitudinal phenotype in CCHS [ Time Frame: 10 years ]
    Collection of longitudinal disease history in 400 CCHS patients

Secondary Outcome Measures :
  1. Sensitive markers of disease progression by PHOX2B mutation/genotype [ Time Frame: 20 years ]
    Evaluate patient reported outcome measures to determine sensitive markers of disease progression for use in intervention trials

  2. Integration of CCHS Registry and Global Rare Diseases Patient Registry (GRDR) [ Time Frame: 20 years ]
    Develop a patient registry for CCHS for use with the GRDR

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
CCHS patients with confirmed PHOX2B mutations

Inclusion Criteria:

  • Individuals with PHOX2B mutation-confirmed CCHS.

Exclusion Criteria:

  • Individuals without PHOX2B mutation-confirmed CCHS.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03088020

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Contact: Casey Rand, BS 312-227-3300 Crand@luriechildrens.org

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United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago and the Stanley Manne Children's Research Institute Recruiting
Chicago, Illinois, United States, 60611
Contact: Erin S Lonergan, BS    312-227-3300    CAMP@luriechildrens.org   
Sponsors and Collaborators
Debra Weese-Mayer
Northwestern University Feinberg School of Medicine
The Chicago Community Trust
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Principal Investigator: Debra E Weese-Mayer, MD Ann & Robert H Lurie Children's Hospital of Chicago
Additional Information:

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Responsible Party: Debra Weese-Mayer, 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, Ann & Robert H Lurie Children's Hospital of Chicago
ClinicalTrials.gov Identifier: NCT03088020    
Other Study ID Numbers: 2013-15203
First Posted: March 23, 2017    Key Record Dates
Last Update Posted: August 22, 2022
Last Verified: August 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Debra Weese-Mayer, Ann & Robert H Lurie Children's Hospital of Chicago:
Paired-like Homeobox gene PHOX2B
autonomic nervous system dysregulation
control of breathing
Hirschsprung disease
neural crest tumors
artificial ventilation
diaphragm pacing
Additional relevant MeSH terms:
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Sleep Apnea, Central
Pathologic Processes
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Sleep Apnea Syndromes
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases