Clinical trial NCT06462430: PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
Official title: Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: PTEN Hamartoma Tumor Syndrome
Macrocephaly Autism Syndrome
Keywords: Phosphotase and tension holomog
Macrocephaly
Autism
PTEN
Lead sponsor: Acibadem University
Sponsor class: OTHER
Collaborators: name: Boston Children's Hospital
name: Ege University
First posted: 2024-06-17
Enrollment: 100
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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

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.

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

Primary outcomes:
measure: Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Acibadem University
Study officials:
affiliation: Acibadem University
name: Hande Kaymakcalan Celebiler, MD
role: PRINCIPAL_INVESTIGATOR
References: