The Natural History Study is funded by NIH and the goal is to help medical professionals study PMS and how it progresses over time. This information is important for developing clinical guidelines, identifying research priorities, and assessing the effectiveness of the clinical intervention.
Individuals 18 months and older with a PMS diagnosis (with SHANK3 involvement) are eligible to enroll. 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.
Participation can be virtual if needed, or in-person at five medical sites across the country. PMSF covers up to $1,200 for study-associated costs such as transportation, parking, food, and lodging.
To increase access for underserved populations, there is an Administrative Diversity Supplement is funding enrollment of 10 additional patients with PMS who are non-English speaking or part of underserved communities. The PMS Natural History Study team has worked to remove time demands and travel costs that this effort may create by providing the option of doing these evaluations virtually, from home and for the Spanish-speaking population, 100% in Spanish.
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)
For more information on study sites, assessments, and more, click the links below
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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
Information on visits during the pandemic: https://drive.google.com/file/d/18ad5cqdxsrpm6GFspEOwTVlePwXPRVYm/view?usp=sharing
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