PMD Natural History Study
Dear Parents, Patients, and Relatives:
PMD Natural History Study Call for Families - Chloe Stutterd, Victorian Clinical Genetics Services
The PMD Foundation, in partnership with the Children’s Hospital of Philadelphia (CHOP) and an international consortium of leukodystrophy clinicians and researchers, 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. This registry, formally known as the Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trial Network (GLIA-CTN) has enrolled over 2,000 individuals with a variety of leukodystrophies since it was founded by Dr. Adeline Vanderver, MD, over a decade ago.
The Study Investigators hope to use medical records and biological samples to better understand how disease progresses over time. You or your family member will not need to travel or be examined in clinic to participate in this study, and the study is open to patients worldwide.
Past efforts by the PMD Foundation to create a patient registry and natural history study have stalled, but there is now an urgent need to collect this type of data: The PMD Foundation has recently learned about upcoming new therapeutic approaches for PMD that will need to be tested in Clinical Trials approved by the U.S. Food and Drug Administration (FDA). Researchers will need to understand the natural history of PMD (how it progresses over time) before they can design Clinical Trials that test whether these therapies are safe and effective for use in the patient population.
If you or your family member would like to participate in the registry and natural history study or if you would like to find out more about it, I ask that you contact the CHOP research team. You may connect with them by submitting their short online ‘Online Referral Survey’ at http://bit.ly/CHOP-PMD. Your responses will be reviewed by their study coordinators, and you will be contacted within 5 business days with additional details on enrollment and participation.
““The vast majority of leukodystrophies are progressive diseases. Complications relating from the specific leukodystrophies can lead to deterioration of health over time. In recent years, with the advances in genetic research, new treatments have been discovered and are being tested for certain types of leukodystrophies. However, the scientific community has realized that we lack knowledge on the natural evolution of these diseases (natural history), making it difficult, sometimes impossible, to determine whether new treatments are working. It is, therefore, urgent that we study the natural history of leukodystrophies and identify and validate markers that can be followed in future treatment trials.”
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If you have additional questions regarding the study – either prior to or following your enrollment – you may contact the CHOP Project Manager, Omar Sherbini, MPH, at sherbinio@email.chop.edu or at (215) 590-3068.