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The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children's has collaborated with doctors from around the world to build the 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 clinical manifestations of ROHHAD with advancing age, and as related to each patient’s specific clinical course. With a better understanding of specific ROHHAD and associated disease 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 your child’s health and well-being) on patients with ROHHAD. Participation would require filling out a confidential survey that asks questions regarding the patient’s phenotype and past medical history. We would also ask for updated to this information on an annual basis. Your involvement in the project is completely voluntary and there is no compensation for taking part. However, we feel this project will help us learn more about this devastating disorder, with the goal of advancing treatment. We appreciate your help.
If you have any questions, please contact CAMP at Lurie Children’s at CAMP@luriechildrens.org or 312.227.3300. If you are interested in having your child participate in this study, please fill out our online form. Thank you very much for considering participation in this project.
At the Center for Autonomic Medicine in Pediatrics, we continually strive to provide the best possible care, and produce the best possible outcomes, for all of our patients. In the ever-advancing field of technology, incredible devices are being made with the potential to revolutionize how we monitor and collect data on our patients. Such devices allow for precise and continuous cardiac, respiratory, activity, and sleep monitoring while patients are in their own homes. This study will validate this technology for use in ROHHAD patients. This is a first step toward better understanding how ROHHAD affects patients at home or during everyday activities. The study will establish biomarkers, or indications of normal or abnormal processes taking place in the body, while at home. Ultimately, this will help us advance knowledge to advance care and treatment of ROHHAD patients.
Click here to read more about our Wearable Technology Project
The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children's is working with a group of international collaborators with expertise in genetics to identify gene(s) or biomarkers which may contribute to or cause ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation).
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.
Participation in this study will require samples of blood, buccal, dental, and/or tumor tissue and signed consent form(s). Please see below for further details about each part of the study.
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 will need consent and a blood or DNA sample from each participant. Please see our ROHHAD Biomarkers Study informational sheet for more information regarding specimen preparation for blood or DNA samples.
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.
Please contact CAMP at CAMP@LurieChildrens.org or 312.227.3300 regarding specimen preparation of cord blood.
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.
Please see our ROHHAD Biomarkers Study informational sheet for more information regarding specimen preparation for tumor tissue samples.
We are collecting buccal samples. This involves swabbing the inside of the cheek of ROHHAD patients.
Please see our ROHHAD Biomarkers Study informational sheet for more information regarding preparation of the buccal sample.
We are collecting dental samples from ROHHAD patients that are losing baby teeth soon or are getting any teeth removed. Please see our ROHHAD Biomarkers Study informational sheet for more information regarding specimen preparation of dental samples.
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.
In the unfortunate event 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.
The Center for Autonomic Medicine in Pediatrics (CAMP), ROHHAD Fight Inc., and the Harvard Brain Tissue Resource Center (HBTRC) are coordinating registration for prospective post-mortem brain donations from ROHHAD families. Although we know this is a difficult thing to think about right now, brain donations are one of the most important contributions a family can make to research. A brain donation is a gift of knowledge that is of critical importance in furthering our understanding of ROHHAD and in helping future ROHHAD patients and families. Even though death may be decades away, the time to start thinking about tissue donation is now. Early discussion reduces the stress associated with such decisions at the time of death and allows for arrangements to be set in advance. We encourage those interested in a brain donation to contact us in advance with questions or concerns, or to request more information.
Some facts to keep in mind:
Steps to a successful donation:
After brain donation:
Shortly after the donation, we mail a package of information and forms to the legal next of kin/legal representative who signed our consent form. This package contains a condolence letter, detailed information regarding brain donation, a medical history questionnaire, medical release form letters, and instructions for their completion and distribution.
If you have relevant medical record copies that you would like included in the donor's records, please send regular photocopies (by U.S. Mail) along with the completed medical history questionnaire, and death certificate photocopies.
Photocopies of the death certificate should also be included with each set of medical release request documents and mailed directly to the respective providers or medical records departments. They will mail the medical record copies directly to the CAMP.
Brain donations through the Medical Examiner/Coroner Office:
Under certain circumstances surrounding a death, a state medical examiner/coroner may be responsible for a postmortem investigation involving the brain tissue. However, the remainder of the brain which is not required for their evaluations may be donated upon request by the family. Generally, medical examiners will cooperate with the family's decision for brain donation. When an investigation by the medical examiner is not required, a pathologist in a nearby hospital can perform the brain removal using a protocol supplied by HBTRC.
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