Groundbreaking Gene Therapy Clinical Trial Offers Glimmer Of Hope For Young Children With Rare Batten Disease

Thursday, April 28, 2016 Clinical Trials News J E 4

COLUMBUS, Ohio, April 27, 2016 /PRNewswire/ -- In the first gene therapy of its kind in humans, a clinical trial has begun at Nationwide Children's Hospital to evaluate a new investigative treatment for victims of a rare neurodegenerative disorder, Batten disease CLN6.  The study is funded by The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease (, which was launched in June 2015 by film producer Gordon Gray and his wife Kristen after their two young daughters were diagnosed with the fatal childhood disease.

At an accelerated pace, extensive safety and efficacy studies funded by the Foundation through thousands of donors resulted in a clinical trial which was initiated following FDA approval this past March.  Led by Drs. Brian Kaspar, Jerry Mendell and Emily De Los Reyes, the hospital's clinical team enrolled the first patient, five-year old Charlotte Gray.  Additional patients are being recruited to receive this investigational treatment, and it is expected that the first three patients will receive the therapy before June, and three additional children will be enrolled before the end of the year.

This groundbreaking and innovative study employs the AAV9 virus, which is not known to cause adverse effects in humans and is able to deliver a replacement CLN6 gene to the brain.  The malfunctioning of the mutated CLN6 gene is what causes Batten disease, and the replacement gene appears to help restore the mutated gene's functionality, allowing cells to purge built-up wastes and restore balance in the brain.

Details about the clinical trial are at  Other patients with Batten disease CLN6 are currently being sought, with enrolled patients eligible to receive a scholarship from the Foundation to assist with travel and living expenses.

With an overall goal of $10 million, the Gray Foundation has raised an estimated $3.5 million from crowdfunding since its launch 10 months ago.  Close to $1.8 million has already been distributed directly to medical research supporting the gene therapy program and additional complementary approaches to treating the disease.  The remainder – and at least $1 million more – is needed to fund this initial clinical trial through completion, expanding it to all children who so desperately need the treatment.

"The Center for Gene Therapy at Nationwide Children's Hospital has worked hard to bring to clinical trial an approach through replacing the missing gene for a disease that has no treatment," says Jerry R. Mendell, MD of Nationwide Children's Hospital. "The most direct way to correct a genetic disease is to restore what is missing and that is precisely what we have done in the work with the first patient with this devastating disease enrolled in the trial. We are working side-by-side with the Gray Foundation to make this approach available to other children with Batten Disease CLN6. While this is the first step in making treatment a reality for this condition, we want potential partners in this campaign to know that we will do everything we can to make a difference for this disease, including refining these initial efforts if any symptom of the disease remains unresolved."

In addition to Dr. Mendell's efforts, the trial also involves Dr. Brian Kaspar, Dr. Emily De Los Reyes, Dr. Samiah Al-Zaidy from Nationwide Children's Hospital. The project team also praised contributions from Dr. Jill Weimer at Sanford Research.

"This is truly incredible. This is a great example of where researchers from different institutions have come together and collaborated, ignoring the typical timeline to get such work done to give children with CLN6-Batten disease a chance to live," added Dr. David Pearce, President of Sanford Research and Batten disease expert.

"We are beyond grateful to reach this important milestone in only a year after Charlotte's diagnosis," offered Foundation principals Gordon and Kristen Gray.  "Every single donation, social media post and other act of support has carried us to this point.  There is much work that lies ahead, and while we deeply thank our many supporters, we encourage others to join this effort in saving the lives of Charlotte, Gwenyth and all other children like them."

For more information, and to help, please visit

To view the original version on PR Newswire, visit:

SOURCE The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease



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