COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu
Trial record 1 of 3 for:    ROHHAD
Previous Study | Return to List | Next Study

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03135730
Recruitment Status : Recruiting
First Posted : May 1, 2017
Last Update Posted : September 20, 2019
ROHHAD Fight Inc.
Information provided by (Responsible Party):
Debra Weese-Mayer, Ann & Robert H Lurie Children's Hospital of Chicago

Brief Summary:

The Center for Autonomic Medicine in Pediatrics (CAMP) has collaborated with doctors from around the world to build the first International ROHHAD (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation) REDCap (Research Electronic Data Capture) Registry. This registry is an international collaboration with ROHHAD 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 health problems ROHHAD patients face with advancing age, and how these relate to each patient's specific medical course. With a better understanding of specific ROHHAD and associated clinical 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 ROHHAD.

The study aims to obtain detailed phenotypic information (information about health and well-being) on patients with ROHHAD. Participation would require filling out a confidential survey that asks questions regarding health 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.

Condition or disease Intervention/treatment
ROHHAD Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation Genetic: ROHHAD

Detailed Description:

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.

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) REDCap Registry
Actual Study Start Date : June 1, 2013
Estimated Primary Completion Date : December 31, 2021
Estimated Study Completion Date : December 31, 2022

Resource links provided by the National Library of Medicine

Intervention Details:
  • Genetic: ROHHAD
    Suspected and Confirmed ROHHAD cases

Primary Outcome Measures :
  1. longitudinal clinical history in 200 ROHHAD patients [ Time Frame: 10 years ]

Secondary Outcome Measures :
  1. patient reported outcome measures to determine sensitive markers of disease progression or regression for use in intervention trials [ Time Frame: 10 years ]
  2. patient registry for ROHHAD for use with the global rare diseases patient registry and data repository (GRDR) [ Time Frame: 10 years ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with suspected or confirmed ROHHAD worldwide

Inclusion Criteria:

  • Clinical diagnosis of suspected ROHHAD
  • Clinical diagnosis of confirmed ROHHAD

Exclusion Criteria:

  • Clinical diagnosis not consistent with ROHHAD

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03135730

Layout table for location contacts
Contact: Valeria Islas-Montantes, BS 312.227.3300

Layout table for location information
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago and the Stanley Manne Children's Research Institute Recruiting
Chicago, Illinois, United States, 60611
Contact    312-227-3300   
Sponsors and Collaborators
Debra Weese-Mayer
ROHHAD Fight Inc.

Additional Information:

Layout table for additonal information
Responsible Party: Debra Weese-Mayer, Professor of Pediatric Autonomic Medicine, Northwestern University Feinberg School of Medicine Chief, Center for Autonomic Medicine in Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago Identifier: NCT03135730    
Other Study ID Numbers: 2012-14981 and 2013-15230b
First Posted: May 1, 2017    Key Record Dates
Last Update Posted: September 20, 2019
Last Verified: September 2019

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Autonomic Nervous System Diseases
Primary Dysautonomias
Hypothalamic Diseases
Nutrition Disorders
Body Weight
Signs and Symptoms
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Nervous System Diseases
Brain Diseases
Central Nervous System Diseases