About the PMS International Registry

In order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to Phelan-McDermid Syndrome, PMSF is funding the Phelan-McDermid Syndrome International Registry.  The Registry is important for characterizing and understanding the syndrome better.  Not only will the Registry provide valuable information for families and doctors to make the best care decisions possible, it will be important to help researchers decide what are the most important challenges to address.  The Registry will also help scientists find out if there are any PMS patients who might be a good match for their research studies. 

Collecting information from PMS patients is very important, but protecting the privacy of people affected by PMS is also extremely important.  In order to protect your privacy, Patient Crossroads (the company that designed the registry software) has designed many safeguards.  Your child’s information will be “de-identified” so no one who looks at the data can identify you or your child.  Your child’s information will be assigned a code.  If a researcher is interested in learning more about your child, the researcher will ask the Patient Crossroads/PMSIR genetic counselor to contact you.  A scientist will not be able to receive any identifying information about your child unless you give explicit consent for your child’s identity to be released to that researcher.