PMD Foundation Announces International Natural History Study on Individuals with Pelizaeus-Merzbacher Disease
SALADO, TX | August 21, 2019 -- The PMD Foundation, in partnership with Children’s Hospital of Philadelphia (CHOP) and an international consortium of leukodystrophy clinicians and researchers, announced today that they have launched an initiative to collect robust natural history data on individuals with Pelizaeus-Merzbacher Disease (PMD) using a CHOP-based patient registry as a platform.
Enrollment for the study has already begun. PMD patients interested in contributing to the study may reach out to the CHOP research team by submitting information into a brief ‘Online Referral Survey’ at http://bit.ly/CHOP-PMD. Responses will be reviewed by study coordinators, and patients will be contacted with additional details on enrollment and participation.
“We’ll have five sites doing research, looking back on old medical records and establishing the progression of PMD. All of the info is there, but it hasn’t been done before,” said PMD Executive Board Chair Dave Manley. “This is so important. If doctors don’t have a baseline of the disease to compare to before delivering a treatment, they’ll never be able to prove that treatment has successfully worked. We need this history.”
Adeline Vanderver, MD, an attending physician in the Division of Neurology as well as program director of the Leukodystrophy Center of Excellence at CHOP, agrees. “Children being diagnosed with this disease have no time to lose. This study tackles an inherent challenge of the rare disease community, which is having enough longitudinal data to build the scientific foundation for a clinical development program. “
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of disorders called leukodystrophies. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, Pelizaeus-Merzbacher disease involves hypomyelination, which means that the nervous system has a reduced ability to form myelin.
“The single biggest thing we can do as a patient advocacy group is to encourage families to participate in this study. It’s a very easy process, without any travel. They simply have to release their medical records to the research team,” Manley said.
Families of individuals with PMD are encouraged to sign up today. For more information, please visit www.pmdfoundation.org.
# # #
About PMD Foundation
The PMD Foundation is a family-driven organization that proactively serves those affected by Pelizaeus-Merzbacher Disease (PMD) by supporting programs of education, research, service and advocacy. Learn more about PMD and the Foundation at www.pmdfoundation.org.