Update on the PMD Natural History Study

In August of 2019, The PMD Foundation, Children’s Hospital of Philadelphia (CHOP) and an international consortium of leukodystrophy researchers launched an initiative to collect robust Natural History Data on individuals with Pelizaeus-Merzbacher Disease (PMD). Read the announcement here.

We would like to share a message for PMD families from CHOP:

“If you are currently enrolled in the PMD Natural History Study, you may receive an email invitation to participate in an optional 5-10 minute phone interview with one of the researchers working on the project. The purpose of this interview will be to gather additional information about when your child reached certain developmental milestones - such as reaching for objects, sitting supported, smiling, etc. - as this information can be difficult to obtain from medical records alone.

“About 60 families have contacted us since the project was first announced, and 36 are now formally enrolled in the study. Our research team is in communication with those who have not yet consented to ensure that their questions and/or concerns are addressed, and to coordinate the enrollment paperwork logistics.

“The online referral survey can be found here: http://bit.ly/CHOP-PMD. Please know that families do not need to travel to the Children's Hospital of Philadelphia in order to participate in this research, but that our clinical team would welcome the opportunity to arrange a visit if they are interested in obtaining formal medical opinions and/or recommendations.”