International Congenital Central Hypoventilation Syndrome (CCHS) Registry
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.
Conditions:
🦠 Congenital Central Hypoventilation Syndrome
🗓️ Study Start (Actual) 24 June 2013
🗓️ Primary Completion (Estimated) 31 December 2024
✅ Study Completion (Estimated) 31 December 2025
👥 Enrollment (Estimated) 1000
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 Chicago, Illinois, United States

📋 Eligibility Criteria

Description

    Inclusion Criteria:

    • * Individuals with PHOX2B mutation-confirmed CCHS.

    Exclusion Criteria:

    • * Individuals without PHOX2B mutation-confirmed CCHS.
Ages Eligible for Study: N/A to N/A (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 17 March 2017
  • First Submitted that Met QC Criteria 22 March 2017
  • First Posted 23 March 2017

Study Record Updates

  • Last Update Submitted that Met QC Criteria 30 August 2023
  • Last Update Posted 31 August 2023
  • Last Verified August 2023