PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

NCT ID: NCT06462430

Last Updated: 2025-12-04

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-11-01
• Study Completion Date: 2026-12-01

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.

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.

Conditions

PTEN Hamartoma Tumor Syndrome; Macrocephaly Autism Syndrome

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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

• Minimum Eligible Age: 1 Year
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Boston Children's Hospital

OTHER

Sponsor Role: collaborator

Ege University

OTHER

Sponsor Role: collaborator

Yale University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hande Kaymakcalan Celebiler, MD

Role: PRINCIPAL_INVESTIGATOR

Yale University

Locations

Dr.Canan Kocaman pediatric clinic

Istanbul, , Turkey (Türkiye)

Site Status: RECRUITING

Countries

Turkey (Türkiye)

Central Contacts

Hande Kaymakcalan Celebiler, MD

Role: CONTACT

hande.kaymakcalancelebiler@yale.edu

+905323768107

Facility Contacts

Hande Kaymakcalan Celebiler, MD

Role: primary

hande.kaymakcalancelebiler@yale.edu

Other Identifiers

08.11.2022 / 2022-22-02

Identifier Type: -

Identifier Source: org_study_id