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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

Interested in this study? View the official listing for contact and enrollment details.

View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT06462430). StuddyBuddy aggregates publicly available trial information.