RecruitingNot Applicable

PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

Turkey (Türkiye)100 participantsStarted 2022-11-01

Plain-language 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.

Who can participate

Age range1 Year

SexALL

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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

What they're measuring

Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry

Timeframe: 3 years

Trial details

NCT IDNCT06462430

SponsorYale University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-12-01

Contact for this trial

Hande Kaymakcalan Celebiler, MD

+905323768107 hande.kaymakcalancelebiler@yale.edu

View on ClinicalTrials.gov More PTEN Hamartoma Tumor Syndrome trials