PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

NCT06462430 | Recruiting

• 1 other identifier: 08.11.2022 / 2022-22-02
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

PTEN Hamartoma Tumor Syndrome; Macrocephaly Autism Syndrome

Keywords

Phosphotase and tension holomog; Macrocephaly; Autism; PTEN

Outcome Measures

Primary Outcomes (1)

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

  Longitudinal follow up of pediatric patients with PTEN Hamartoma Tumor syndrome ( PHTS) and their adult relatives with PHTS for 3 years to better understand this syndrome to be able to find better follow up guidelines.

  3 years

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients living in Türkiye from age 1 to onwards with both genetic and clinical diagnosis of PTEN Hamartoma Tumor syndrome

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

Sponsors & Collaborators

• Yale University: lead
• Boston Children's Hospital: collaborator
• Ege University: collaborator

Study Sites (1)

Dr.Canan Kocaman pediatric clinic

Istanbul, Turkey (Türkiye)

RECRUITING

MeSH Terms

Conditions

Hamartoma Syndrome, Multiple; Macrocephaly Autism Syndrome; Megalencephaly; Autistic Disorder

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Hande Kaymakcalan Celebiler, MD

  Yale University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Hande Kaymakcalan Celebiler, MD

CONTACT

+905323768107; hande.kaymakcalancelebiler@yale.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 12, 2024
• First Posted: June 17, 2024
• Study Start: November 1, 2022
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: December 4, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, CSR
• Time Frame: After the results is published
• Access Criteria: Researchers need to directly contact the principal investigator to discuss this

Locations

TU (1)