RecruitingNCT06462430

PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry


Sponsor

Yale University

Enrollment

100 participants

Start Date

Nov 1, 2022

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 1 Year

Inclusion Criteria1

  • 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 Criteria1

  • 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

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Locations(1)

Dr.Canan Kocaman pediatric clinic

Istanbul, Turkey (Türkiye)

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NCT06462430


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