Imagine a disease so rare that very little research exists to predict its outcomes. Leukodystrophies, which are inherited diseases of the brain and spinal cord’s protective white matter, fit this description. These disorders affect one in 7,000 individuals. But when researchers and donors at Children’s Hospital of Philadelphia hear “rare” and “insurmountable,” they don’t get discouraged. They get to work.
The Division of Neurology established the Leukodystrophy Center of Excellence in 2015 to address the medically complex needs of children living with leukodystrophies. Founded by Amy Waldman, MD, the center offers comprehensive care to families battling these uncommon degenerative disorders and conducts novel translational research for emerging therapies. In its first year, the Leukodystrophy Center grew rapidly to serve more than 50 patients. That momentum is expected to continue. The success of the center attracted one of the world’s foremost experts in leukodystrophies, Adeline Vanderver, MD, who joined the team as Medical Director in September 2016.
In the center’s first year, it successfully raised more than three-quarters of a million dollars, thanks to the generosity of a number of passionate supporters. Among these donors are the Calliope Joy Foundation, the Auto Dealers CARing for Kids Foundation, Hunter’s Hope Foundation and Elise’s Corner. Their gifts are supporting the center’s efforts to design personalized treatment plans, develop imaging and laboratory diagnostics, create the newborn screening evaluation clinic, and establish a pilot research program to advance treatment options for patients with leukodystrophies. Without this philanthropic support, the center’s team would not be able to investigate these diseases or offer comprehensive care to its many patients.
Leukodystrophy Center patients benefit from CHOP’s expertise in managing complex conditions and translating lab research into effective therapies. The clinic offers multidisciplinary care that incorporates neurology, metabolics, rehabilitation, medicine and complex care pediatrics. As the center grows, it will build upon CHOP’s success in gene therapy, bone marrow transplants and stem cell transplants to continue to be the leader in therapeutics for inherited white-matter diseases.
“This is a game-changing moment for the care and treatment of leukodystrophies, and we are so pleased the doctors and researchers at CHOP believe they can give hope to the children and families that was unimaginable not long ago,” says Maria Kefalas of the Calliope Joy Foundation.
The Leukodystrophy Center is uniquely poised to maximize advances in clinical care and therapeutics for leukodystrophies. It is just one example of how Children’s Hospital of Philadelphia finds answers to the questions posed by even the most rare conditions.