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Recruiting
NCT06462430
PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
Conditions: PTEN Hamartoma Tumor Syndrome, Macrocephaly Autism Syndrome
Sex: All
Ages: 1 Year – N/A
Enrollment: 100
Sponsor: Yale University
Location: Dr.Canan Kocaman pediatric clinic Istanbul
Summary
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 up guidelines can be recommended.
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 not agree to participate in the study
Source: ClinicalTrials.gov (NCT06462430). StuddyBuddy aggregates publicly available trial information.