Dear friends,

It’s an honor being the RE Children’s Consortium research coordinator and I wanted to share with everyone an overview of our progress.  Since joining this past January, we have been able to accomplish a great deal through the help of our experienced research teams and continued support from our RE Children’s Project community.   It is vital that we build-up our research infrastructure in order to find appropriate treatments and a cure for RE.  Creating a research infrastructure for a rare disease like RE is particularly tricky, but under Seth Wohlberg’s guidance we are making this a reality.  We are confident that if we can increase the supply of tissue, blood and cerebral spinal fluid (CSF) that is dedicated to research we can build a foundation that will advance RE research interest and get us many steps closer to a cure.   With this time-tested blueprint in mind, my main goals have been to: inventory our consortium’s resources, establish processes to collect and share biological research material for RE research, and strengthen our collaborations within the RE and epilepsy communities.

I’m  proud to say that through the collective efforts of our teams at Mattel’s Children’s Hospital UCLA, Children’s Hospital Boston, and Johns Hopkins University School of Medicine, led by Drs. Gary Mathern, Frances Jensen, and Carlos A. Pardo-Villamizar, respectively, we have been able to inventory what biological sample resources we have available at each consortium site.   This will allow us to best utilize these resources in current RE research projects within our consortium.  Our next step was to establish the legal and contractual framework necessary to allow our consortium sites to share and further collect research material.

Currently, we are finalizing our institutional review boards (IRBs) and material transfer agreements (MTAs) in order to allow research material to be shared between our consortium members for research projects.   An IRB is a committee designed to review research proposals.  In order to protect the rights of people who decided to participate in research projects, all institutions are required to send a research proposal to a review board for approval.  MTAs, on the other hand, define the legal contract that establishes the conditions of the transfer of tangible research materials between the owner and the recipient.  Basically, MTAs are contracts that allow institutions to share research material, which is usually de-identified to maintain the integrity of the original IRB that allowed it to be collected.   As discussed in previous blog entries, IRB boards can take considerable time and effort to gain approval.  Fortunately, our due diligence and hard work have allowed us to make excellent headway with our IRB and MTA processes.

To ensure that we have the material necessary to sustain and drive research, the RE Children’s Project is asking patients to please request that their doctors and surgeons contact us to arrange for the shipment of brain tissue to the research centers focused on RE.  Please contact me at joevoros@gmail.com or Seth Wohlberg at swohlberg@rechildrens.com and let us know that you are interested in participating in our research programs.   One’s ownership of his or her biological material following a surgery is not a cut-and-dry matter.  Legislative rulings and the institutional consent processes vary.   With a verbal request and the proper paperwork patients are well within their rights to request that their tissue be transferred after surgery.  We are working very hard to finalize the proper forms and processes to ensure your wishes are carried out.    This is a challenging task, since different sites have different collection processes and bureaucratic requirements.    We are here to help you through this process and have had success navigating these waters through our medical collaborations.  Thus far, we’ve been able to collaborate with New York University (NYU) and Children’s National Medical Center in order to transfer tissue samples to UCLA and Johns Hopkins.  This is a true testament of the support we’ve received from the RE and epilepsy communities as well as the strength of the RE Children’s medical collaborations.

The RE Children’s Project continues to receive strong support from medical and patient communities worldwide.  In order to build on this momentum and keep RE research at the forefront of the medical community’s mind, I’ve been working diligently to strengthen and build-out our collaborations.  With the help of National Institute of Health (NIH) Directors, Drs. Vicky Whittemore, and Brandy Fureman we have been able to gain valuable information on grant opportunities and rare disease resources, such as the Rare Diseases Clinical Research Network (RDCRN), and NeuroNEXT: Network for Excellence in Neuroscience Clinical Trials.  Through Drs. Whittemore and Fureman, I was able to reach out to Dr. Yaffa Rubinstein, Director of Patient Resources for Clinical and Translational Research Office of Rare Diseases Research and submit a Request for Information (RFI) to a pilot program to establish the Global Rare Diseases Patient Registry and Data Repository (GRDR).  If our RFI is accepted, we will have the opportunity to participate in the GRDR, which will allow our consortium’s patient registry to become part of NIH’s landmark program.   Additionally, I reached-out to Liz Donohue, Director of Coordination of Rare Diseases at Sanford (CoRDS) – a national rare disease registry designed to accelerate research into these rare conditions.  Liz was very eager to learn about The RE Children’s Project’s progress and shared potential partnership opportunities with us.  Most recently, I had the distinct pleasure of representing The RE Children’s Project at the American Epilepsy Society’s (AES) joint event with the Institute of Medicine (IOM), which launched their landmark study report on the public health dimensions of the different forms of epilepsy.

Important gains in research infrastructure, logistics and collaborations have been made, however none of this would have been possible without everyone’s support- thank you.   Your emails, calls and personal meetings truly demonstrate the strength and passion of our RE Children’s Project community.   We are building on our momentum and moving closer to a cure.

I look forward to our continued dialogue.

Kindest regards, Joe Voros

Joe Voros