PMS Natural History Study is OPEN

By Katherine Still, Ph.D
Scientific Director

Open enrollment for the Phelan-McDermid syndrome (PMS) Natural History Study

The Natural History study is a long-term research initiative designed to collect detailed clinical and genetic information about people with PMS. This study has been ongoing since 2014 and is funded by the NIH and is in partnership with the Rare Diseases Clinical Research Network. Participation in the study involves visits to one of five medical centers to perform physical/neurological exams, behavioral testing, and other testing. We need your help to increase enrollment and keep the study going!

So far, family participation in this study has already resulted in:

Enrollment of >164 families with children, adolescents, and adults with PMS; this is a remarkable accomplishment for a rare disorder and could not have been possible without your enthusiasm and the unwavering support of the PMS Foundation.
Several research publications in PMS over the past six years based on data
Connections with pharmaceutical companies developing drugs for PMS
Clinical consensus guidelines
Better understanding of symptoms, when they arise, and best pharmaceutical interventions
Development of assessments relevant to PMS

Because of family participation and our success, the NIH has funded a second phase of this study until 2024!

The goals of this phase are to expand the age range of participants, develop clinical care guidelines, and identify biomarkers that correlate with symptoms and predict response to treatment.

The Natural History Study is currently enrolling individuals 18 months and older with PMS for this study. Data is especially needed from individuals within the youngest age range, <5 years of age, for which the least amount of data has been collected thus far. Data is also needed from typically developing children. Siblings of PMS children aged 2-12 are welcome to enroll.

To enroll, contact the site coordinator closest to you:

Maryland (NIH) – Margaret Pekar (pekarm@mail.nih.gov)
California (Stanford) – Ella Jetvic (ejevtic@stanford.edu); Elijah Kravets (ekravets@stanford.edu)
New York (Mount Sinai) – Frankie Garces (francesca.garces@mssm.edu)
Massachusetts (Boston Children’s) – Aisling Quinlan (aisling.quinlan@childrens.harvard.edu)
Illinois (Rush) – Alexandra Lopez Hernandez (alexandra_lopezhernandez@rush.edu)

English information: https://drive.google.com/file/d/1k18-Z2-ZohNxJ7L2ZglDg194ouJzNYgR/view?usp=sharing

Español información: https://drive.google.com/file/d/1h3Bp4Q6bXd2EMw1sVecEr1xL2iR9Nc_X/view?usp=sharing

PMSF travel program ($1200): https://docs.google.com/document/d/1OPicA2f9IdkjMDXw90ZC0pZUGDy_SmT2126eJqRaMLY/edit?usp=sharing

Virtual visits are an option.

Information on visits during the pandemic: https://drive.google.com/file/d/18ad5cqdxsrpm6GFspEOwTVlePwXPRVYm/view?usp=sharing

Get Involved! Join our RDCRN Contact Registry to learn more about new and ongoing research studies and more. Visit: www.rdcrn.org/dsc/registry to sign up and learn more