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
Acibadem University
RECRUITING
Istanbul
Contact Information
Primary
Hande Kaymakcalan Celebiler, MD
hande.celebiler@acibadem.edu.tr
+902165004444
Time Frame
Start Date: 2022-11-01
Estimated Completion Date: 2026-01-02
Participants
Target number of participants: 100
Related Therapeutic Areas
Sponsors
Collaborators: Ege University, Boston Children's Hospital
Leads: Acibadem University