Ignite Creation Date:
2024-07-17 @ 11:13 AM
Last Modification Date:
2024-10-26 @ 3:32 PM
Study NCT ID:
NCT06462430
Status:
RECRUITING
Last Update Posted:
2024-06-17
First Post:
2024-06-12
Brief Title:
PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
Sponsor:
Acibadem University
Organization:
Acibadem University
Study Overview
Official Title:
Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome PHTS and Creation of Patient Registry
Status:
RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
PtenTurkiyeorg 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 andor 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 parentguardian 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
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 andor 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 parentguardian 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None