PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry

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.

Study Overview

• Status: Recruiting
• Conditions: PTEN Hamartoma Tumor Syndrome; Macrocephaly Autism Syndrome

Detailed Description

There is a limited understanding of the natural history of childhood-onset PTEN Hamartoma Tumour Syndrome (PHTS) as a cancer predisposition syndrome. Patient registries are important for longitudinal follow up of these patients. Our aim is to create a Turkish registry especially for pediatric PHTS patients, but registry is open to adult PHTS patients as well.

The purpose is to engage families with children with PHTS in the data-sharing process to accelerate research and drug development and share their experiences with other families as a support if they agree to do so. The registry is open to both adults and children with PHTS.

Most pediatric patients with PHTS have autism spectrum disorders, developmental delays and/or intellectual deficiencies. Patient registry will help us see if they are getting appropriate behaviour interventions. There is no consensus on the guidelines for cancer surveillance in children. The investigators will follow these patients according to 'pediatric follow-up protocol for PTEN (Phosphatase and tensin homolog) mutated children' created by Ciaccio et al. Patient registry will also help if these guidelines are sufficient or need improvements.

Once the individual or their parent/guardian has consented to participate in the registry, the researchers will collect their past and current medical, familial, and other necessary demographic information from their medical records and face to face interviews. The investigators will follow up patients every 6 months or earlier if needed. The investigators will do thorough physical and dysmorphological exam (using autism research exchange dysmorphology check list). For patients with autism and other behavioral problems, the investigators will refer them to child and adolescent psychiatry clinics for evaluation.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Hande Kaymakcalan Celebiler, MD; Phone Number: +905323768107; Email: hande.kaymakcalancelebiler@yale.edu

Study Locations

• Turkey (Türkiye)
  • Istanbul, Turkey (Türkiye)
    • Recruiting
    • Dr.Canan Kocaman pediatric clinic
    • Sub-Investigator: Esra Bilge Isik, MD
    • Sub-Investigator: Esra Kilic, MD
    • Sub-Investigator: Hatice Mutlu Albayrak, MD
    • Sub-Investigator: Pelin Ozlem Simsek Kiper, MD
    • Contact: Hande Kaymakcalan Celebiler, MD; Email: hande.kaymakcalancelebiler@yale.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• 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

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Yale University
• Collaborators: Boston Children's Hospital; Ege University
• Investigators: Principal Investigator: Hande Kaymakcalan Celebiler, MD, Yale University

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2022
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026

Study Registration Dates

• First Submitted: June 12, 2024
• First Submitted That Met QC Criteria: June 12, 2024
• First Posted (Actual): June 17, 2024

Study Record Updates

• Last Update Posted (Estimated): December 4, 2025
• Last Update Submitted That Met QC Criteria: November 26, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Autism; PTEN; Macrocephaly; Phosphotase and tension holomog
• Additional Relevant MeSH Terms: Autism Spectrum Disorder; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Neoplasms; Genetic Diseases, Inborn; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Neoplastic Syndromes, Hereditary; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Autistic Disorder; Hamartoma Syndrome, Multiple; Megalencephaly; Macrocephaly Autism Syndrome
• Other Study ID Numbers: 08.11.2022 / 2022-22-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Results of the data
• IPD Sharing Time Frame: After the results is published
• IPD Sharing Access Criteria: Researchers need to directly contact the principal investigator to discuss this
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No