ROHHAD Studies
The Center for Autonomic Medicine in Pediatrics (CAMP) at Ann & Robert H. Lurie Children’s is working with an international group of physicians and scientists to advance research and care for patients and families with ROHHAD (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) around the world. 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:
International ROHHAD Registry
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.
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 individuals with ROHHAD.
Participate in the Study
The study aims to obtain detailed information about the health and well-being of individuals 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 updates 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 ROHHAD, 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 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 patients with ROHHAD. This is a first step toward better understanding how ROHHAD affects patients at home or during everyday activities. The study will help us establish biomarkers and indications of normal and/or abnormal processes taking place in the body by expanding monitoring to the home setting. Ultimately, this will help us advance knowledge to improve care and treatment of individuals with ROHHAD.
Click here to read more about our Wearable Technology Project
ROHHAD Biomarkers Study
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.
The purpose of this IRB-approved study is to gain a better understanding of ROHHAD. The study aims to recruit individuals with ROHHAD from around the world. This project will go a long way toward improving diagnosis and care of individuals with ROHHAD. We appreciate your help.
Participate in this Study
Participation in this study will require specimen samples. This will likely include a saliva sample. Blood or tumor samples may also be requested from some individuals. We are collecting these samples from both patients with ROHHAD and their family members, especially the parents of individuals with ROHHAD.
Parental samples will allow us to determine if something we identify in an individual with ROHHAD 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).
Tooth Fairy Project
We are collecting dental samples from individuals with ROHHAD that are losing baby teeth soon or are getting any teeth removed. If they are expected to lose teeth in the near future, participation in this study would require them sending in this lost tooth to our collaborators. Additionally, it would require signed consent form(s). It is very important for this type of project that we have as many participants as possible, especially in a disease as rare as ROHHAD. We feel that this project will go a long way toward improving diagnosis and care of patients with ROHHAD in the future.
Click here to read about our Tooth Fairy Project
Toolbox Study
Children with disorders of respiratory and autonomic regulation such as ROHHAD sometimes have altered neurocognitive ability due to their illness. We want to learn more about these neurocognitive difficulties, what factors contribute to these difficulties, and how these difficulties affect children and young adults with ROHHAD over time. This project will study the cognitive development of children and young adults with ROHHAD.
This study requires an in-person 45-minute iPad assessment featuring game-like tests using a validated application called the NIH Toolbox. If you are interested in learning more about this study and how to participate, please contact CAMP at CAMP@LurieChildrens.org or 312.227.3300.
Post-Mortem Autopsy Samples
In the unfortunate event of the death of an individual with ROHHAD, 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 want to learn more about this project, please consider reading more below. If you are interested or have any questions, please contact CAMP at Lurie Children’s at CAMP@luriechildrens.org or 312.227.3300.
The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children’s Hospital in Chicago, 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 patients with ROHHAD 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 deciding now is crucial to allow the donation to successfully advance ROHHAD research.
- Contact HBTRC to get more information about preparing for donation today at HBTRC@Mclean.Harvard.edu or at 1.800.BRAIN BANK (1.800.272.4622)
- Contact CAMP to discuss how donation will contribute to ROHHAD research at CAMPResearch@luriechildrens.org or at 312.227.3300.
Steps to a successful donation:
- 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, indicate 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 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.
Additional Information
- Brain donation does not interfere with an open casket or other traditional funeral arrangements.
- Brain donation is compatible with organ donation.
- ROHHAD Fight Inc. will cover the costs of local brain removal, shipment to our facility and all sample storage and research after the donation. ROHHAD Fight Inc. 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 their funeral professionals. You should let them know of your donation interest, find out whether 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.