Registry for pediatric patients with PTEN Hamartoma Tumor Syndrome
Official title: Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
Run by Yale University · NCT06462430 · Data updated 2026-11-12
This study is collecting information from families of children with PTEN Hamartoma Tumor Syndrome to better understand the condition and improve care for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Year and up |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Yale University Academic / other |
| Locations | 1 site (Istanbul) |
| Status | Recruiting |
| Started | November 1, 2022 |
| Main results expected | December 1, 2026 |
| Study ends | December 1, 2026 |
| Registry record updated | August 31, 2026 |
| Trial ID | NCT06462430 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include pediatric patients with clinical findings of PHTS and a mutation in the PTEN gene.
✕Probably not a fit
Patients without clinical findings of PHTS or without a mutation in the PTEN gene may not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This registry aims to collect and analyze data on pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) to enhance understanding of the condition's natural history and improve follow-up guidelines. It engages families in sharing their experiences and medical histories, which will help in accelerating research and drug development. The registry is open to both children and adults with PHTS, focusing particularly on the pediatric population, many of whom also have autism spectrum disorders and developmental delays. Data will be gathered through medical records and interviews, allowing for longitudinal follow-up of participants.
Why it matters
Potential benefit: If successful, this registry could lead to improved guidelines for cancer surveillance and better behavioral interventions for children with PHTS.
How similar studies have gone: While registries for similar conditions have shown success in gathering valuable data, this specific registry is a novel initiative focused on the Turkish population.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Dr.Canan Kocaman pediatric clinic
Istanbul, Turkey (Türkiye) Recruiting
Study contacts
- Principal investigator: Hande Kaymakcalan Celebiler, MD — Yale University
- Study coordinator: Hande Kaymakcalan Celebiler, MD
- Email: hande.kaymakcalancelebiler@yale.edu
- Phone: +905323768107
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Investigating genetic factors in childhood cancer
This study is trying to find out if certain genes passed down in families can increase the risk of childhood cancer by looking at samples from kids who have had cancer and their relatives.
-
Observational study on cancer risk in children with PTEN gene mutations
This study is trying to understand the cancer risks in children with PTEN gene mutations to help improve how they are monitored and treated.
-
Using video capsules to examine patients with Lynch Syndrome
This study is testing whether video capsules can be a good alternative to regular colonoscopies for people with Lynch Syndrome to help improve cancer screening.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.