PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

Recruiting now

Conditions studied: PTEN Hamartoma Tumor Syndrome, Macrocephaly Autism Syndrome

In brief

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.

Key facts

Study ID

NCT06462430

Run by

Yale University

People needed

100

Starts

2022-11-01

Expected to finish

2026-12-01

Last updated by the study team

2025-12-04

Who can join

Age: 1 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Dr.Canan Kocaman pediatric clinic — Istanbul, Turkey (Türkiye) (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.