About the Leukodystrophy Center

The Leukodystrophy Center at Children's Hospital of Philadelphia provides comprehensive clinical care, diagnostic testing and the most advanced treatments available to infants, children and adolescents with inherited white matter diseases.

For newborns identified through neonatal screening as being at risk of having leukodystrophy, and for children diagnosed prior to the onset of symptoms, we plan to deliver potentially curative therapies. Our goal is to create standardized methods of treatment for leukodystrophy, including bone marrow and stem cell transplantation and gene therapy.

For children and adolescents who are already living with the complex challenges of conditions such as metachromatic leukodystrophy, adrenoleukodystrophy, Krabbe disease, and Alexander disease, we will provide state-of-the-art, multidisciplinary care. We will also pursue research that leads to clinical trials, new treatments and potential cures.

Watch the video to hear from families treated at the Leukodystrophy Center and meet members of our team.

View this video with a transcript

What are leukodystrophies?

Leukodystrophies are a group of rare, inherited disorders that affect the white matter in the brain and spinal cord. The most common symptoms of these diseases include developmental regression: Children may gradually lose muscle tone, along with the ability to move, speak, eat, see and hear.

Although there is currently no cure for these diseases, early diagnosis can allow healthcare providers to establish preventative strategies that improve quality of life for children and their families.

The need for a dedicated Leukodystrophy Center

Several states have expanded newborn screening to identify infants and young children with leukodystrophies. CHOP anticipates this expanded screening will identify four newborns per week in the region who are at risk of having leukodystrophy.

As these newborns are discharged from local hospitals, they will be referred to CHOP and other designated facilities. At CHOP, our metabolic team will conduct expedited testing on these children to determine if they are actually affected by the disease. Those who are affected will then be seen in our comprehensive Leuokdystrophy Center, where they will have access to state-of-the-art diagnostic imaging studies and integrated care from top specialists across CHOP.

Children’s Hospital of Philadelphia is home to one of the largest pediatric neurology divisions in the world. We also have a world-class metabolic disease center, the ability to perform the latest genetic sequencing, and expertise in bone marrow and stem cell transplantation.

Here, your child will benefit from our expertise in managing complex conditions such as leukodystrophies, as well as our ongoing research into new treatments and potential cures for these diseases.