Clinical trial · Observational
PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Macrocephaly Autism Syndrome | — | UNRESOLVED | — |
| PTEN Hamartoma Tumor Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry
- timeFrame
- 3 years
- description
- Longitudinal follow up of pediatric patients with PTEN Hamartoma Tumor syndrome ( PHTS) and their adult relatives with PHTS for 3 years to better understand this syndrome to be able to find better follow up guidelines.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 1 Year
Show eligibility criteria text
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
References
Publications (0)
Data not yet available