Clinical Trial: International Congenital Central Hypoventilation Syndrome (CCHS) Registry

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

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

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.


Detailed Summary:

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 t
Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago

Current Primary Outcome: Longitudinal phenotype in CCHS [ Time Frame: 10 years ]

Collection of longitudinal disease history in 400 CCHS patients


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Sensitive markers of disease progression by PHOX2B mutation/genotype [ Time Frame: 10 years ]
    Evaluate patient reported outcome measures to determine sensitive markers of disease progression for use in intervention trials
  • Integration of CCHS Registry and Global Rare Diseases Patient Registry (GRDR) [ Time Frame: 10 years ]
    Develop a patient registry for CCHS for use with the GRDR


Original Secondary Outcome: Same as current

Information By: Ann & Robert H Lurie Children's Hospital of Chicago

Dates:
Date Received: March 17, 2017
Date Started: June 24, 2013
Date Completion: December 31, 2022
Last Updated: March 22, 2017
Last Verified: March 2017