PTEN Hamartoma Tumor Syndrome Phenotyping

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Children and adults with PTEN Hamartoma Tumor Syndrome (PHTS) are at risk for specific long-term medical complications including autism spectrum disorder and cancer. While protocols for cancer screening exist, we do not yet have protocols for screening other complications of this syndrome, including neurobehavioral differences and immunologic changes. This pilot study will assess these outcomes in children and young adults with PHTS ages 1 to 20 years.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at cancerpredisposition [at] chop.edu or 215-590-9399.

Eligibility & Criteria

IRB #:
20-017722
Official Title:
Phenotypic Features of Pediatric PTEN Hamartoma Tumor Syndrome
Eligible Age Range:
1 - 20 Years
Gender:
All
Study Categories:
Leader
Suzanne P. MacFarland Headshot

Suzanne P. MacFarland, MD