Coalition Of Parent-Led Foundations Brings Gene Therapy Treatment Closer To Reality

NASHVILLE, Tenn. - Oct. 31, 2016 - PRLog -- Over the past three years, parent-led efforts have raised half a million dollars to support gene therapy research at Nationwide Children's Hospital (Columbus, Ohio) to treat the ultra-rare disease Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II). This month alone, Nashville-based foundation Saving Case & Friends, along with Ohio-based Help Extinguish Hunter Syndrome, Texas-based Hunter Syndrome Foundation, and Vancouver, B.C.-based MPS II Research Fund collectively donated $200,000 to bring the research closer to a human clinical trial.

Together with several other parent-led fundraising efforts – Caring for Carter, Ryan Our Lion, and Hope 4 Hunter, these foundations have supported this research, led by Douglas McCarty, Ph.D., and Haiyan Fu, Ph.D., of Nationwide, for several years.

Hunter Syndrome is a rare, genetic condition that affects approximately 2,000 patients worldwide, almost exclusively young boys. Patients are missing an enzyme, resulting in the accumulation of cellular waste throughout the body. Babies develop normally for the first few years, and then begin to experience progressive symptoms like stiff joints, enlarged liver and spleen, behavioral problems, constant ear infections and runny nose, and heart valve complications. The average life span for someone with the most common, severe form of the disease is in the early teens.

There is no cure for the disease, although once diagnosed, patients can begin receiving a weekly infusion of an enzyme replacement therapy. This medication, Elaprase, is one of the most expensive in the world, often $400,000 or more per patient, per year, and only stabilizes some of the physical symptoms of the disease. Because it does not cross the blood-brain-barrier, it does nothing to prevent the progressive brain damage that occurs in most children affected by the disease.

Dr. McCarty notes, "This gene therapy for MPS II is the result of more than a decade of collaborative research efforts of the research team here at Nationwide and Dr. Joseph Muenzer [of the University of North Carolina, Chapel Hill], with support from MPS II patient family foundations. This gene therapy approach targets the root cause of MPS II by delivering the correct gene using a vector that can cross the blood-brain-barrier. Our preclinical data have shown great promise with lifelong benefits in MPS II mice after a single intravenous injection. We believe that we are well positioned to move forward towards a Phase 1/2 clinical trial in patients with MPS II."

To raise funds, the foundations organized local fundraisers and also promoted an award-winning online campaign called Project Alive (ProjectAlive.org). The campaign received a Telly Award for its powerful and emotional video and an Honorable Mention for its song "Alive," written by a parent of a child with Hunter Syndrome, from the International Songwriting Competition.

About Saving Case & Friends

Incorporated in 2014, SC&F is a leading Hunter Syndrome research & advocacy foundation, raising awareness of Hunter Syndrome globally, funding curative research for the disease, and advocating for patients and families affected by Hunter Syndrome. In 2015, SC&F launched Project Alive, a campaign that received support from celebrities, broad media attention, and awards for its powerful message. For more information, visit SavingCase.com or ProjectAlive.org.