- What is this study?
The aim of this study is to collect blood, urine, cerebrospinal fluid (CSF), brain tumor and normal
brain tissue specimens from pediatric patients with diffuse intrinsic pontine glioma (DIPG) or
brainstem glioma, either during therapy or postmortem, for investigation in the laboratory in
order to learn more about brainstem glioma and work towards developing better treatments.
- Why is this important?
High grade diffuse intrinsic pontine glioma (DIPG) accounts for approximately 80% of pediatric
brainstem tumors and 10% of pediatric brain tumors, and is the most lethal form of brainstem
gliomas in children. There is currently no effective therapy to treat these tumors. DIPGs and
brainstem gliomas are rarely biopsied, making samples of the tumor unavailable for scientific
study. Our goal is to characterize the genetic abnormalities that lead to tumor formation, which
will help us identify therapeutic targets for designing more effective forms of treatment. In
order to do this, we must have tumor tissue to examine in the laboratory. By participating in
this study, you and your child would be giving a gift that would allow us to investigate these
tumors and find better treatments for the children who suffer from them in the future.
- Who can participate in this study?
Patients up to age 21 with clinical and radiologic diagnosis of diffuse intrinsic pontine glioma or
brainstem glioma may participate in this study.
- Who is conducting this study?
This study is led by a research team at DIPG Consortium centers . The principle investigators are Drs. Javad Nazarian (Children's National Medical Center,) Kathy Warren, (National Cancer Institute), Eric Raabe, (Johns Hopkins Hospital) and other scientists and physicians in the Departments of Neurosurgery, Neurology, and Neuro-oncology within the DIPG Consortium centers .
- What does it mean for my child to enroll in this study?
You may elect to donate samples collected during the course of your their treatment, postmortem,
a. Donating samples during the course of your child's treatment:
If child's doctor determines that during the course of treatment your child needs a
procedure to obtain blood, urine, CSF or tumor tissue, a portion of this sample may be
donated to our research laboratory for further study. Samples collected during the course
of your child's treatment will not be collected for research purposes alone.
b. Donating samples post-mortem:
Brainstem glioma is a terrible disease, and one for which we do not yet have a cure.
Sadly, for many children this is a terminal illness. If your child succumbs to his or her
tumor, you may decide to donate samples for study upon your child's passing. This is a
precious and invaluable gift that can help children in the future suffering from this terrible
tumor by providing scientists a way to investigate it and develop potential treatments. You
may elect for blood, CSF, tumor and brain tissue to be donated upon your child's passing
through a post-mortem (autopsy) procedure.
- Where do we go to participate in this study?
a. Donating Samples during treatment:
Children receiving care for their brainstem tumor at any of the DIPG at any of the Consortium centers can easily be enrolled in this study, and we will coordinate with your child's doctors for
donation to the study upon sample collection. However, you do not need to be a patient at DIPG Consortium hospitals to participate in this study. Study investigators can coordinate with your child's doctor ahead of time and will arrange shipment of specimens to DIPG Consortium centers .
b. Donating samples post-mortem:
We understand that this is a very difficult time for your child and family, and if you would
like to donate samples for study upon your child's passing we have a system in place to
make this process as easy as possible. Children suffering from terminal illness may
succumb to their disease unexpectedly. Therefore, families should work with their health
care team to make any decisions and arrangements that are right for them at this difficult
time. Importantly, the choice to make a post mortem donation will not require
families to amend their end of life planning, or change memorial or funeral
services: we will work to coordinate the donation process around these
At the time of enrollment in this study, we ask that you share your end of life plans with
us. We can arrange transport to DIPG Consortium centers or your local hospital
for the post-mortem examination upon passing, followed by transport to the location of
your choosing for any memorial services you may have planned. Samples collected at
other institutions will be shipped to DIPG Consortium centers . All of the costs associated with the transportation and the procedures will be covered by DIPG Consortium.
- What samples are collected during my child's treatment, and what is involved with each?
a. Urine and Blood
Your child's doctor may determine that blood or urine tests are needed for diagnosis or
treatment. Collection will be performed in the usual fashion and only as determined
necessary by your child's doctor. A portion of these samples can be donated to
DIPG Consortium centers for further study.
b. Cerebrospinal Fluid (CSF) and Tumor Tissue
During the course of treatment your child's doctor may determine that surgery to take a
sample (biopsy) or remove a portion or the entire tumor is necessary. If your child
undergoes surgery, their neurosurgeon will give a sample of tissue to study in the
laboratory. Your child's neurosurgeon may also collect cerebrospinal fluid (CSF) from
around the brain and donate this sample for research study. Children with brainstem
tumors who are not undergoing surgical biopsy or removal of their tumor, but are
undergoing placement, revision, or clinical evaluation of a ventriculoperitoneal shunt,
may also participate in the study. Your child's neurosurgeon may collect CSF from the
shunt and donate a sample to study in the laboratory.
- What samples are collected postmortem, and what is involved
Samples of tumor, normal brain, cerebrospinal fluid (CSF) and blood may be donated upon
the patient's passing. This is called post-mortem collection of specimens, and it involves an
autopsy procedure, also known as post-mortem examination, performed by a specialized
physician known as a pathologist. During this procedure, the pathologist will collect blood from
a blood vessel and cerebrospinal fluid from around the brain. The pathologist will also collect a
portion of the brainstem which will include normal and tumor tissue. Lastly, the pathologist will
collect a portion of normal brain tissue from the frontal lobe. These tissue samples will be sent
to the laboratory for further study.
In order to access the brainstem and CSF, the pathologist will make an incision at the base of
the skull and open the cranial bone. The pathologist will remove the brain tissue and isolate the
brainstem, brainstem tumor, and a portion of the frontal lobe. These samples will then
immediately be sent to our laboratory for storage and study. Upon completion of the postmortem
examination procedure, the opening in the cranial bone and skin incision will be closed.
This incision will not be visible to observers during a funeral or memorial service.
Institutional Review Board
- What potential risks are involved?
Participation in this study does not require any experimental therapies or procedures.
Participants will only undergo procedures deemed necessary by his or her physicians as part of
the standard diagnosis and treatment of a child with a brainstem tumor, and only after the risks
and benefits of these procedures are explained by your child's doctor and informed consent is
- Are there additional treatments or tests required?
Participation in this study does not require additional evaluations, hospitalizations, doctor visits or
treatments for your child. Your child will undergo procedures and treatments only as determined
by their physicians as part of the standard of care for their disease. Post-mortem donation does
require an autopsy procedure, but this does not affect the treatment, course or prognosis of your
- Are there costs associated with participation in this study?
Because no additional treatments or procedures will be performed outside of the care already
planned by your child's physicians, no additional costs will be incurred should you chose to
donate samples to this study during your child's treatment. If you elect to donate samples
through a post-mortem examination, all associated costs will be covered by this study at no
additional cost to you.
- What will happen to the samples my child donates?
Donated samples will immediately be sent to laboratories at the DIPG Consortium centers
for processing and storage. Samples will enable scientists to perform a wide variety of studies. Blood, urine, CSF and tumor samples can be examined and compared to normal samples in order to identify markers such as proteins that are unique to brainstem gliomas. Genetic analysis will also be performed to identify potential genetic causes of the disease. These markers provide information about the behavior and make-up of the tumor, and can help improve diagnosis and develop targeted treatments. In addition, isolated tumor cells can be grown in a culture dish in order to observe their behavior and closely examine their genetic characteristics. By looking at tumor cell DNA, RNA and proteins, we can better understand how these tumors form and grow, and design therapies to kill tumor cells without affecting healthy brainstem tissue or creating terrible side effects. These tumor cells can then be used to grow tumors in animal models, such as mice, so that we can test the effectiveness of the drugs we design to treat them. In this way, donated samples will continue to provide scientists the ability to study this disease for years to come, in hopes of identifying more effective therapies for children with diffuse intrinsic pontine gliomas (DIPG) and other brainstem cancers, helping them live longer and suffer less from the treatment and progression of their disease.
- Will my child's medical and personal information be kept private
We will keep the records of this study confidential. We will not tell anyone that participants are in
the study. Only the people working on the study will know the participant's name. They will keep
this information in case we have to find the participant later for medical reasons. The federal
government can review the study records and medical records to make sure we are following the
law and protecting the children in the study and to make sure our results are correct. A child's
medical record is confidential, but just like any medical record; there are some exceptions under
state and federal law.
- Will postmortem donation affect end of life care, funeral or
We want to emphasize that understand that the choice to make a post mortem donation will
not require families to amend their end of life planning, or change memorial or funeral
services: we will work to coordinate the donation process around these arrangements.
We will work closely with you and your child's health care team to coordinate donation in a
respectful manner. Importantly, the postmortem examination does not leave any marks that
would be visible during bereavement services.
- What can we expect to happen when it is time for postmortem
Upon your child's passing, participating families should notify DIPG Consortium centers. The team will contact transportation services for transport to the hospital where the postmortem examination is to take place, and notify the pathologist to perform the procedure. The autopsy procedure will be completed as soon as possible, often within 24 hours. Upon completion we will then arrange for transport of the body to the destination of the family's choosing.
- If we have additional questions or concerns, who can we call?
We want study participants to ask questions about any part of this study at any time. If study
participants have research or medical questions about this study, please contact the DIPG Consortium .