PTEN Gene MutationNCT03680924
Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome
An observational study of PTEN Gene Mutation, run by University of South Florida at 1 site in United States.
Trial summary
The purpose of this study is to gain a better understanding of access to clinical and research resources for families of children affected with a phosphatase and tensin homology (PTEN) mutation. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- PTEN Gene Mutation
- How many people
- 13 participants
- Where
- 1 siteUnited States
- Study dates
- 11 May 2018to 13 Sep 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 years and older
- All sexes
- Adult, Older adult
Study population: Families of children with PTEN mutation that are enrolled in the RDCRN Contact Registry.
Who may be able to join
- Family members, specifically a parent, legal guardian, or relative, of a child who meets the following:
- Age 3 to 17 years old at the time of survey completion
- Reported diagnosis of a PTEN mutation
- Enrollment in the RDCRN Contact Registry
Who cannot join
- Inability to provide informed consent and complete survey
- Inability to read and understand English
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this study is to gain a better understanding of access to clinical and research resources for families of children affected with a phosphatase and tensin homology (PTEN) mutation. Ultimately, the researchers hope to be able to use this information to develop a standard of care for affected individuals and their family members. Family members/legal guardians of an individual with a PTEN mutation enrolled in the Rare Diseases Clinical Research Network (RDCRN) Contact Registry will be invited via email to participate in this study.
Read the detailed description
The purpose of this study is to investigate access to clinical care and clinical research for patients with PTEN hamartoma tumor syndrome. This research will entail an anonymous online survey sent to families/caretakers of affected children. The survey will inquire: (1) basic clinical information about the child, such as diagnoses (both genetic and neurodevelopmental), level of functioning (estimated IQ) (2) clinical specialists that the child sees or needs to see (3) how families learn about clinical trials/research relevant to their child (4) basic demographics about the parent/caretaker completing the survey.
Specifically, this survey will collect information pertaining to:
- Number of affected children in household
- PTEN mutation type of affected children
- Age and gender of affected children
- Age, neurodevelopmental disorders, medical problems, IQ, and access to clinical care (specialists currently being seen, specialists not able to see and why) of most affected child
- Research methods and mediums for disorder-specific treatment options for affected children
- Reasons behind not participating in clinical research options
- Facts (gender, age, if PTEN mutation carrier, work status, relationship to affected children, days per week of caregiving responsibilities, education level) about participant completing survey.
In total, the survey should take no more than 15 minutes to complete.
- Conditions
- PTEN Gene Mutation
- Keywords
- PTEN, phosphatase and tensin homology mutation
What is being measured
The primary outcome is the main question the study is designed to answer.
Online Survey completed by family member(s) of affected child(ren) with PTEN
The survey will collect information regarding number of affected children in household, PTEN mutation type of effected children, age and gender of effected children, Age, neurodevelopmental disorders, medical problems, IQ, and access to clinical care (specialists currently being seen, specialists not able to see and why) of most affected child, research methods and mediums for disorder-specific treatment options for affected children, reasons behind not participating in clinical research options, and Facts (gender, age, if PTEN mutation carrier, work status, relationship to affected children, days per week of caregiving responsibilities, education level) about participant completing survey.
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2018
- Study start11 May 2018
- Primary completion1 Apr 2019
- Study completion13 Sep 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for PTEN Gene MutationStudies of the same condition, open and under way.
- More trials run by University of South FloridaThe 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
- Other
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of South Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03680924
- Sponsor's protocol ID
- DSC 7907
- Status last verified
- Feb 2019
- First submitted
- 18 Sep 2018
- Last updated
- 16 Oct 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Frazier TW, Embacher R, Tilot AK, Koenig K, Mester J, Eng C. Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. Mol Psychiatry. 2015 Sep;20(9):1132-8. doi: 10.1038/mp.2014.125. Epub 2014 Oct 7.
PubMed 25288137Tramontana T, Yehia L. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2026 Jul 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1488/
PubMed 20301661Hansen-Kiss E, Beinkampen S, Adler B, Frazier T, Prior T, Erdman S, Eng C, Herman G. A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. J Med Genet. 2017 Jul;54(7):471-478. doi: 10.1136/jmedgenet-2016-104484. Epub 2017 May 19.
PubMed 28526761Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289.
PubMed 10234502Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009 Feb;18(1):13-27. doi: 10.1007/s10897-008-9187-7. Epub 2008 Oct 30.
PubMed 18972196
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome
- ClinicalTrials.gov ID
- NCT03680924
- Acronym / sponsor ID
- DSC 7907
- Conditions
- PTEN Gene Mutation
- Keywords
- PTEN, phosphatase and tensin homology mutation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- University of South FloridaUniversity, hospital or other
- Collaborators
- Boston Children's Hospital
- Study start
- 11 May 2018 (actual)
- Primary completion
- 1 Apr 2019 (actual)
- Study completion
- 13 Sep 2019 (actual)
- First posted
- 21 Sep 2018 (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.
The purpose of this study is to gain a better understanding of access to clinical and research resources for families of children affected with a phosphatase and tensin homology (PTEN) mutation. Ultimately, the researchers hope to be able to use this information to develop a standard of care for affected individuals and their family members. Family members/legal guardians of an individual with a PTEN mutation enrolled in the Rare Diseases Clinical Research Network (RDCRN) Contact Registry will be invited via email to participate in this study.
Detailed description
The purpose of this study is to investigate access to clinical care and clinical research for patients with PTEN hamartoma tumor syndrome. This research will entail an anonymous online survey sent to families/caretakers of affected children. The survey will inquire: (1) basic clinical information about the child, such as diagnoses (both genetic and neurodevelopmental), level of functioning (estimated IQ) (2) clinical specialists that the child sees or needs to see (3) how families learn about clinical trials/research relevant to their child (4) basic demographics about the parent/caretaker completing the survey.
Specifically, this survey will collect information pertaining to:
- Number of affected children in household
- PTEN mutation type of affected children
- Age and gender of affected children
- Age, neurodevelopmental disorders, medical problems, IQ, and access to clinical care (specialists currently being seen, specialists not able to see and why) of most affected child
- Research methods and mediums for disorder-specific treatment options for affected children
- Reasons behind not participating in clinical research options
- Facts (gender, age, if PTEN mutation carrier, work status, relationship to affected children, days per week of caregiving responsibilities, education level) about participant completing survey.
In total, the survey should take no more than 15 minutes to complete.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Families of children with PTEN mutation that are enrolled in the RDCRN Contact Registry.
Key inclusion criteria (4 listed)
- Family members, specifically a parent, legal guardian, or relative, of a child who meets the following:
- Enrollment in the RDCRN Contact Registry
Key exclusion criteria (2 listed)
- Inability to provide informed consent and complete survey
- Inability to read and understand English
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
Online Survey completed by family member(s) of affected child(ren) with PTEN
Time frame: 3 months
The survey will collect information regarding number of affected children in household, PTEN mutation type of effected children, age and gender of effected children, Age, neurodevelopmental disorders, medical problems, IQ, and access to clinical care (specialists currently being seen, specialists not able to see and why) of most affected child, research methods and mediums for disorder-specific treatment options for affected children, reasons behind not participating in clinical research options, and Facts (gender, age, if PTEN mutation carrier, work status, relationship to affected children, days per week of caregiving responsibilities, education level) about participant completing survey.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2019.
- Background: PubMed 25288137Frazier TW, Embacher R, Tilot AK, Koenig K, Mester J, Eng C. Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. Mol Psychiatry. 2015 Sep;20(9):1132-8. doi: 10.1038/mp.2014.125. Epub 2014 Oct 7.
- Background: PubMed 20301661Tramontana T, Yehia L. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2026 Jul 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1488/
- Background: PubMed 28526761Hansen-Kiss E, Beinkampen S, Adler B, Frazier T, Prior T, Erdman S, Eng C, Herman G. A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. J Med Genet. 2017 Jul;54(7):471-478. doi: 10.1136/jmedgenet-2016-104484. Epub 2017 May 19.
- Background: PubMed 10234502Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289.
- Background: PubMed 18972196Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009 Feb;18(1):13-27. doi: 10.1007/s10897-008-9187-7. Epub 2008 Oct 30.
Related trials for PTEN Gene Mutation
Active, not recruitingPhase 2
Testing GDC-0032 (Taselisib) as a Potential Targeted Treatment in Cancers With PIK3CA Genetic Changes (MATCH-Subprotocol I)
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Recruiting
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
BRCA1 Mutation, POLD1 Gene Mutation
Not yet recruitingPhase 2/3
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
Cowden's Disease, Cowden's Syndrome
Active, not recruitingPhase 2
Testing GSK2636771 as a Potential Targeted Treatment in Cancers With PTEN Genetic Changes (MATCH-Subprotocol N)
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Active, not recruitingPhase 2
Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations
Bile Duct Adenocarcinoma, Fanconi Anemia Complementation Group Gene Mutation
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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Gene Mutation, run by University of South Florida at 1 site in United States.
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 4 inclusion and 2 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: finished, as of the sponsor's last update on 16 Oct 2019. 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 United States. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Online Survey completed by family member(s) of affected child(ren) with PTEN (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03680924, which also lists 5 linked publications.
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 16 Oct 2019.