Registry for pediatric patients with PTEN Hamartoma Tumor Syndrome
Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
Yale University · NCT06462430
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 1 Year and up |
| Sex | All |
| Sponsor | Yale University (other) |
| Locations | 1 site (Istanbul) |
| Trial ID | NCT06462430 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include pediatric patients with clinical findings of PHTS and a mutation in the PTEN gene.
Not a fit: Patients without clinical findings of PHTS or without a mutation in the PTEN gene may not benefit from this registry.
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 performed: While registries for similar conditions have shown success in gathering valuable data, this specific registry is a novel initiative focused on the Turkish population.
Eligibility criteria
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 this trial is running
Istanbul
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: PTEN Hamartoma Tumor Syndrome, Macrocephaly Autism Syndrome, Phosphotase and tension holomog, Macrocephaly, Autism, PTEN