New registry aims to unlock secrets of rare genetic condition in kids

NCT ID NCT06462430

Recruiting now Knowledge-focused Sponsor: Yale University Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a registry for children with PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition that increases cancer risk. Researchers will follow 100 participants for 3 years to link genetic changes with health outcomes. The goal is to develop better monitoring guidelines, not to test a treatment.

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Conditions

The condition(s) this trial relates to.

autism Cowden disease macrocephaly-autism syndrome megalencephaly PTEN hamartoma tumor syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

MACROCEPHALY AUTISM SYNDROME PTEN HAMARTOMA TUMOR SYNDROME

Contacts and locations

Locations

Dr.Canan Kocaman pediatric clinic
RECRUITING

Istanbul, Turkey (Türkiye)

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