Registry Following Children With PTEN Hamartoma Tumor Syndrome
Collects health and genetic information from children with PTEN hamartoma tumor syndrome.
Key facts
- Who runs it
- Yale University
- Where
- Istanbul, TürkiyeSee the site
- Trial code
- Registry title
- PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
- Status
- Recruiting
- People taking part
- 100 people, planned
- Started
- 1 Nov 2022
- Expected to end
- 1 Dec 2026
- Type of study
- Observational
- Record updated
- 31 August 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for children and young people with PTEN hamartoma tumor syndrome (PHTS) who have a PTEN gene change and clinical signs of PHTS. They must agree to take part.
- Age
- 1 Year and older
- Sex
- All sexes can join.
- Disease stage
- Clinical findings of PTEN hamartoma tumor syndrome (PHTS).
- Biomarker or test result
- A change (mutation) in the PTEN gene. A variant of unknown significance (VUS) counts if the person shows clinical findings.
Main reasons for not taking part
- No clinical findings of PHTS
- No change in the PTEN gene
- Does not agree to take part
The registry criteria, word for word
Show all 2 criteriaShow less
Who can take part
- 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
Who cannot take part
- 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
Where in Türkiye
- Dr.Canan Kocaman pediatric clinicIstanbul, TürkiyeContact: Hande Kaymakcalan Celebiler, MDTaking people
About the trial
What the trial wants to find out
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.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
- Plain-language title
- Registry Following Children With PTEN Hamartoma Tumor SyndromeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 31 August 2026