Study TitleMapping the genotype, phenotype, and natural history of Phelan-McDermid syndrome (PMS).
Study Protocol Description:
SHANK3 is a critical gene involved in coding how brain cells “talk” to each other. Loss of one copy of the SHANK3 gene leads to a disorder called Phelan-McDermid syndrome. Many people with Phelan-McDermid syndrome also have autism. As part of this study, we are studying and tracking the progression of people with Phelan-McDermid syndrome to better understand the underlying biological processes and long-term course of this genetic disorder.
Study Eligibility Criteria:
You or your child may be eligible to participate if you meet the following criteria:
- Are least 18 months old.
- Have pathogenic deletions or mutations of the SHANK3 gene.
- Speak English as a primary language.
If you're interested in participating in this study, please email firstname.lastname@example.org.