Leukodystrophy Center News

Data from patients across the world helped determine the symptom profile of the disorder and potential underlying mechanisms, an important first step for improving diagnosis and studying potential treatments

Children’s Hospital of Philadelphia (CHOP) today announced the establishment of the Elise’s Corner Endowed Chair in Alexander Disease Research. Dr. Amy T. Waldman, Medical Director of the Leukodystrophy Center and a pediatric neurologist at CHOP, has been named the inaugural chair holder. Funded by Elise’s Corner and Jim and Marguerite Pearson, the role will support research and treatments for Alexander disease, a form of leukodystrophy that progressively damages the nervous system.

CHOP’s Leukodystrophy Center, one of the leading centers of its kind in the nation, now offers Lenmeldy to treat children with metachromatic leukodystrophy (MLD). 

While unable to speak, patients can understand parents and caregivers, paving the way for future clinical trial design

A JAK inhibitor helped patients with Aicardi-Goutières Syndrome meet important developmental milestones.

Some diseases affect only a small number of people, and yet CHOP’s commitment to researching and treating them is huge.

The Leukodystrophy Center sees patients from all over the country and the world. Our services include a newborn diagnostic clinic and a comprehensive care clinic that provides state-of-the art care.