International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation (ROHHAD) Registry

ROHHAD is a rare, devastating disorder in which affected children demonstrate abnormalities
of respiratory control, hypothalamic/endocrine function, and autonomic nervous system (ANS)
dysregulation (ANSD). Affected children are seemingly normal until development of dramatic
and rapid weight gain which occurs over a 6-month period between 1.5 and 10 years of age -
heralding disease onset. The ROHHAD phenotype appears to evolve with advancing age and with
variable timing of successive features. This study aims to develop a patient registry for
ROHHAD, 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 ROHHAD REDCap Registry will be identified and recruited
from CAMP's registry of new, current, and past ROHHAD referrals, including ROHHAD patients
referred for 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 ROHHAD 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:

- Clinical diagnosis of suspected ROHHAD

- Clinical diagnosis of confirmed ROHHAD

Exclusion Criteria:

- Clinical diagnosis not consistent with ROHHAD