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.
Participate in the Study
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.
ROHHAD Wearable Technology Study
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.
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.
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.
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.
Post-Mortem Autopsy Samples
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:
Indicating your intent to participate is not binding. You may change your mind at any time.
All procedures are ethical and respectful. Your donation is an important contribution to ROHHAD research and will be handled by professional pathologists and researchers to ensure the greatest good can be gained from your donation.
Brain donation will not affect any funeral or burial arrangements. There is no disruption to the deceased’s appearance and no significant postponement to funeral arrangements.
Families will incur no costs as a result of study participation.
Brain donation is only useful if obtained within hours after death, so making arrangements now is crucial to allow the donation to successfully advance ROHHAD research.
Have a family discussion about the donation. Brain donation is a decision that individuals and their families make only after thoughtful consideration. The decision has important emotional and practical implications. It is very important that the immediate family is aware of the decision for donation and the steps that are required in the event of donation.
Determine a local funeral home you plan to utilize. Study team members will coordinate transportation of the deceased with the funeral home you have chosen. After donation, the deceased will be transported to this funeral home and funeral services will proceed according to the family’s wishes.
Contact HBTRC to learn more about this process.
Inform your health care providers about your decision.
At the time of impending death and/or at death, family members or caretakers should call 1.800.BRAIN BANK (1.800.272.4622) and be prepared to provide the following information
Current location of donor's body, i.e. (hospital, nursing home, medical examiner’s office, funeral home) and their respective contact information
Date and time of death (if known) or the "last seen alive time" and death circumstances
Contact information for the funeral home or cremation service that the family will be using. If the decedent is not yet there, what time they are expected to be there?
Study staff members can be reached by phone 24/7. They will guide you through the process of brain donation.
Study staff guides the legal next-of-kin/legal representative through the consent process and other documents. Please note that only the legal next-of-kin/legal representative can sign the Informed Consent Form.
Study staff then forward completed information to a pathologist who will then proceed with removal and recovery of the donation. Study staff will work directly with the pathologist in charge of the donor's body. Most often, the brain will be removed and shipped to the HBTRC within hours following the death of the donor. Only the donor’s brain will be sent to HBTRC, so the donor’s body will not be transported away from your local area.
Finally, it is essential that the study team also receives detailed information about the brain donor. A staff member will contact you again a few days after the brain donation to guide the legal next-of-kin through the process of releasing the donor’s medical records and ask that a questionnaire about the brain donor be filled, or carry out a phone interview.
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.
Brain donation does not interfere with an open casket or other traditional funeral arrangements.
Brain donation is compatible with organ donation.
ROHHAD Fight will cover the costs of local brain removal, shipment to our facility and all sample storage and research after the donation. ROHHAD Fight will also cover the cost of the transportation to a facility if needed exclusively for brain removal, but may not be financially responsible for: any additional transportation costs, "facility use" or other miscellaneous charges that may be imposed by the family's funeral home or cremation service. Potential donors and donor families are encouraged to discuss these topics with your funeral professionals. You should let them know of your donation interest, find out whether or not such charges might occur and pre-negotiate your final arrangements accordingly.
The family will receive an autopsy report approximately 2-3 months after brain donation. Brains are permanently stored for research purposes.