PTEN Hamartoma Tumor SyndromeNCT06462430
PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
An observational study of PTEN Hamartoma Tumor Syndrome and Macrocephaly Autism Syndrome, run by Yale University at 1 site in Turkey (Türkiye).
Trial 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… Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- PTEN Hamartoma Tumor Syndrome, Macrocephaly Autism Syndrome
- How many people
- 100 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Nov 2022to 1 Dec 2026
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- Child, Adult, Older adult
Study population: Patients living in Türkiye from age 1 to onwards with both genetic and clinical diagnosis of PTEN Hamartoma Tumor syndrome
Who may be able to join
- 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 join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Dr.Canan Kocaman pediatric clinic
Istanbul
Hande Kaymakcalan Celebiler, MD, hande.kaymakcalancelebiler@yale.edu
Esra Bilge Isik, MD
About this study
Official title: Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
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.
Read the 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 and/or 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 parent/guardian 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.
- Keywords
- Phosphotase and tension holomog, Macrocephaly, Autism, PTEN
- Medical subject headings
- Hamartoma Syndrome, Multiple, Macrocephaly Autism Syndrome, Megalencephaly, Autistic Disorder
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry
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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jun 2024
- Study start1 Nov 2022
- Primary completion1 Dec 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PTEN Hamartoma Tumor SyndromeStudies of the same condition, open and under way.
- More trials run by Yale UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Yale University
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital, Ege University
- Responsible party
- Sponsor
- Investigators
- Hande Kaymakcalan Celebiler, MD, Principal investigator, Yale University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06462430
- Sponsor's protocol ID
- 08.11.2022 / 2022-22-02
- Status last verified
- Aug 2026
- First submitted
- 12 Jun 2024
- Last updated
- 31 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Results of the data
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry
- ClinicalTrials.gov ID
- NCT06462430
- Acronym / sponsor ID
- 08.11.2022 / 2022-22-02
- Keywords
- Phosphotase and tension holomog, Macrocephaly, Autism, PTEN
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Yale UniversityUniversity, hospital or other
- Collaborators
- Boston Children's Hospital, Ege University
- Study start
- 1 Nov 2022 (actual)
- Primary completion
- 1 Dec 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 17 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 and/or 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 parent/guardian 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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 3 Years
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patients living in Türkiye from age 1 to onwards with both genetic and clinical diagnosis of PTEN Hamartoma Tumor syndrome
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (1 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry
Time frame: 3 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2026.
- Individual participant dataSharing planned: Yes. Results of the data
Related trials for PTEN Hamartoma Tumor Syndrome
Active, not recruitingObservational study
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
PTEN, ASD
RecruitingObservational study
Familial Investigations of Childhood Cancer Predisposition
Acute Leukemia, Adenomatous Polyposis
Not yet recruitingPhase 2/3
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
Cowden's Disease, Cowden's Syndrome
RecruitingObservational study
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
PTEN Hamartoma Syndrome
Recruiting
Video Capsule Examination in Patients With Lynch Syndrome
Lynch Syndrome, Li Fraumeni Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Hande Kaymakcalan Celebiler, MD principal investigator
Yale University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PTEN Hamartoma Tumor Syndrome and Macrocephaly Autism Syndrome, run by Yale University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 31 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hande Kaymakcalan Celebiler, MD (+905323768107, hande.kaymakcalancelebiler@yale.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype-phenotype correlations of pediatric patients with PTEN Hamartoma Tumor Syndrome (PHTS) and creation of patient registry (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2026.