PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

Recruiting Observational Study
PTEN Hamartoma Tumor Syndrome Macrocephaly Autism Syndrome
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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Review the details below, then apply to join this clinical trial.

At a Glance
Age
1 and older
Sex
Any
Study type
Observational
Participants needed
100 (estimated)
Sponsor
Yale University · Other
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About This Trial
PtenTurkiye.org' is a national ( Turkish), web-based registry for PTEN Hamartoma Tumour ( PHTS) syndrome established in 2022. It is designed to increase awareness, gather scientific knowledge by collaboration and increase data accessibility, collect high-quality data on the epidemiology, genetic background and natural history of PHTS especially for pediatric patients so that more accurate follow u…
Trial Locations
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Eligibility Criteria
Inclusion Criteria: * Patients who have clinical findings of PHTS and have mutation in PTEN gene ( VUS included if show clinical findings) and agree to participate in the study Exclusion Criteria: * Patients who do not have clinical findings of PHTS and do not have mutation in PTEN gene and do no…
Contacts

Hande Kaymakcalan Celebiler, MD

+905323768107

hande.kaymakcalancelebiler@yale.edu

CONTACT