Researchers build national registry to map rare genetic disorder

NCT ID NCT06462430

Summary

This study aims to create a national patient registry in Turkey for people with PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition. It will follow 100 children and adults with PHTS for three years to collect detailed health information. The goal is to better understand how the disease progresses and to develop improved guidelines for monitoring and care, especially for children who often have autism and developmental delays.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Dr.Canan Kocaman pediatric clinic

    RECRUITING

    Istanbul, Turkey (Türkiye)

    Contact

    Contact

    Contact Email: •••••@•••••

    Contact

    Contact

Conditions

Explore the condition pages connected to this study.