International Congenital Central Hypoventilation Syndrome (CCHS) Registry

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry

Conditions
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Congenital Central Hypoventilation Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individuals with PHOX2B mutation-confirmed CCHS. Exclusion Criteria: Individuals without PHOX2B mutation-confirmed CCHS.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Longitudinal phenotype in CCHS | Collection of longitudinal disease history in 400 CCHS patients | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sensitive markers of disease progression by PHOX2B mutation/genotype | Evaluate patient reported outcome measures to determine sensitive markers of disease progression for use in intervention trials | 20 years | 
| Integration of CCHS Registry and Global Rare Diseases Patient Registry (GRDR) | Develop a patient registry for CCHS for use with the GRDR | 20 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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artificial ventilation, CCHS, PHOX2B, Paired-like Homeobox gene PHOX2B, autonomic nervous system dysregulation, control of breathing, Hirschsprung disease, neural crest tumors, neuroblastoma, ganglioneuroma, ganglioneuroblastoma, diaphragm pacing