International Congenital Central Hypoventilation Syndrome (CCHS) Registry

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.

Inclusion Criteria:

- Individuals with PHOX2B mutation-confirmed CCHS.

Exclusion Criteria:

- Individuals without PHOX2B mutation-confirmed CCHS.