The purpose of this IRB-approved study is to gain a better understanding behind ROHHAD. The study aims to recruit patients from around the world. This project will go a long way toward improving diagnosis and care of ROHHAD patients. We appreciate your help.
Participate in the Study
Participation in this study will require samples of blood, buccal, and/or tumor tissue and signed consent form(s). Please see below for further details about each part of the study.
Blood or DNA Sample
We are collecting small blood sample or DNA sample from both patients with ROHHAD and their family members, especially the parents of ROHHAD patients. Parental samples will allow us to determine if something we identify in a ROHHAD patient is inherited, and thus NOT likely a factor in ROHHAD, or if it is de novo (which means a new variation in the DNA, not inherited, and thus much more likely to play a role in ROHHAD). In addition to patient DNA and parental DNA, we will also need DNA of any available siblings.
We are collecting cord blood from ROHHAD patients (blood from the umbilical cord). This may have been stored at the hospital where the ROHHAD patient was born. Please call the hospital if you are unsure. We are looking at differences in the blood prior and after disease onset to see any differences can be found. This study will involve sending us any of the banked or stored cord blood of ROHHAD patients.
We are also collecting tumor tissue. When tumor tissue is removed, it is often banked/stored for future analysis. If tumor tissue is stored, participation in this study will require sending us the tumor tissue from ROHHAD patients so that our team of experts may analyze the tumor.
Subject Adolescent Assent – should be signed by the patient if the patient is between the ages of 12-17 years, this is done in addition to the parent consent.
For the parents and/or siblings (if sending parent/sibling blood or DNA samples):
Control Adult Consent – should be signed individually for each participating parent or sibling (only if the sibling is 18 years or older). Each parent and/or sibling will need a separate consent.
Control Parent Consent – should be signed by parents for each participating sibling under the age of 18 years old. One consent will need to be signed for each child.
Control Adolescent Assent – should be signed by each sibling that is between the ages of 12-17 years, this is done in addition to the parent consent.
If you have any questions, please contact CAMP at Lurie Children’s at CAMP@LurieChildrens.org or 312.227.3300 with any questions and to review the consents. Once signed, please scan and email, fax, or mail the consents to CAMP. Thank you very much for considering participation in this project.
The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children's is working with international group of physicians and scientists to advance research and care for ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) patients and families. Together, we are currently conducting extensive studies into the cause of ROHHAD. Identifying a cause for ROHHAD will allow improved diagnosis and a target for future treatment options. As ROHHAD is a very rare disease, participation of families around the world affected by ROHHAD is paramount to advancing this research. We need your help.
If you are interested in helping us advance ROHHAD research, you can contribute in the following ways:
We are collecting neuroimaging records for ROHHAD patients. If brain, tumor, or adenoma imaging has been previously performed in the ROHHAD patient, we ask that you provide us copies of the imaging files. This includes past and current imaging. This study will allow us to investigate possible causes of ROHHAD.
Post-Mortem Autopsy Samples
In the unfortunate even of the death of a ROHHAD patient, please consider donating post-mortem autopsy samples. We believe these samples could be integral in unraveling the cause of ROHHAD and allowing improved treatment options to be discovered.
If you are interested in any of the studies listed above or have any questions, please contact CAMP at Lurie Children’s at CAMP@luriechildrens.org or 312.227.3300. Thank you very much for considering participation in these projects.