power of partnerships
BVMC – the Partners who found the connection
The Brain Vascular Malformation Consortium is an NIH
funded program formed in 2003 with the goal of bringing
together several organizations concerned with vascular
malformations of the brain for common projects and to foster
research that would benefit the field of neuroscience at large.
The initial participants were the Sturge-Weber Foundation,
the Angioma Alliance and the HHT, interested investigators,
national centers and the Kennedy Kreiger Center at Johns
Hopkins Medical Center.
The SWF fostered this collaboration with the two other
foundations and their researchers to apply for a Rare Disease
Clinical Research Networking (RDCRN) Consortium
Grant.
The Brain Vascular Malformation Consortium (BVMC)
application was awarded the grant and joined a stellar
group of not-for-profits utilizing a total of $117 million for
research into their respective diseases. The BVMC funding
goes directly to the researchers and their institutions with a
nominal stipend to the SWF.
The role of the SWF has been to support the BVMC in all
aspects, especially channeling families and individuals with
SWS into the BVMC research projects.
The BVMC began Aim One of the current research program
by enrolling appropriate families at participating hospitals
and currently has 191 enrollees.
Within the SWF sphere, any individual or family can
participate by calling the SWF office to ask to be referred to
one of these hospitals:
• Detroit Children’s Hospital in Michigan
• Nationwide Children’s Hospital in Columbus, Ohio
• Kennedy Krieger Center at Johns Hopkins Medical
Center in Baltimore
• Will’s Eye Institute at Thomas Jefferson Medical Center,
Philadelphia
• Texas Children’s Hospital
4
The only qualifying questions are: Do you or your child have a
diagnosis of SWS? Can you provide documentation?
Your contact information is then sent to the hospital you
choose and they contact you. That hospital then proceeds
with the next step in the study.
Aim 2 has completed enrollment of SWS samples and is no
longer enrolling SWS subjects.
WHY IS THIS
IMPORTANT?
This will be the first large
scale 5 year study and
banking of Sturge-Weber
syndrome tissue with
participants recruited at 5
of the 10 SWF Centers of
Excellence and the Kennedy
Krieger Institute SWS
Center. The goals of the study
are to establish a scalable,
GNAQ gene mutation
relational database to facilitate
observational studies and clinical trials; to use urine samples
to identify angiogenic mediators as markers for disease
progression and to use tissue and DNA samples for DNA
analysis.
HOW DOES THIS RESEARCH BENEFIT ME?
The identification of markers for progression would improve
patient surveillance and optimize management of the
syndrome and prepare for the day when treatment trials
will be developed. It is our sincere belief this study will
also further drive research into emerging related clinical
and scientific investigations and clinical trials. Ultimately,
improving your quality of life which is one of the reasons the
SWF was founded in 1987.
Without the work of the Consortium, which is on-going,
the GNAQ gene mutation discovery would have been
decades away.
Celebrating 26 Years of Compassionate and Professional Service