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

Conditions

• Congenital Central Hypoventilation Syndrome

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jun 24, 2013

Status verified

Aug 2024

Primary completion

Dec 31, 2031

Completion

Dec 31, 2032

Study Design

Enrollment

1,000 participants (estimated)

Primary Outcome Measure

Longitudinal phenotype in CCHS [ Time Frame: 20 years ]

Central Contacts

• Casey Rand, BS
  312-227-3300
  [email protected]

Locations (1)

Find similar trials in Chicago, IL

Related Studies

• Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
  Recruiting · Debra Weese-Mayer · Los Angeles, California
• CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)
  Recruiting · Ann & Robert H Lurie Children's Hospital of Chicago · Chicago, Illinois