PMS International Registry

Registry_Shot

Enrolling will make a world of difference.

In order to move 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, many safeguards have been designed into the registry software.  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 PMSF Registry Coordinator 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.

Please direct patient or researcher questions to the Registry Coordinator:

B A Rudolph Found. 11.18.16

Rebecca Davis, MS, LGC

Data Network Specialist, Registry Coordinator
Rebecca is a genetic counselor and the PMSF Registry Coordinator. Her role is to answer family and researcher’s questions about the PMSIR and PMS_DN.   She follows strict privacy policies to protect patient data.  Rebecca also manages researcher requests for access to data according to PMSF policies and procedures.

PMSF | Phelan-McDermid Syndrome Foundation