Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
Status: Recruiting
Location: See location...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 1
View:
• 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
Locations
Other Locations
Turkey
Dr.Canan Kocaman pediatric clinic
RECRUITING
Istanbul
Contact Information
Primary
Hande Kaymakcalan Celebiler, MD
hande.kaymakcalancelebiler@yale.edu
+905323768107
Time Frame
Start Date: 2022-11-01
Estimated Completion Date: 2026-12-01
Participants
Target number of participants: 100
Related Therapeutic Areas
Sponsors
Collaborators: Ege University, Boston Children's Hospital
Leads: Yale University