Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

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ClinicalTrials.gov Identifier: NCT03680924

Recruitment Status : Completed

First Posted : September 21, 2018

Last Update Posted : October 16, 2019

Sponsor:

Collaborator:

Boston Children's Hospital

Information provided by (Responsible Party):

University of South Florida

Study Description

Brief 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. 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.

Condition or disease
PTEN Gene Mutation

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

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Study Type :	Observational
Actual Enrollment :	13 participants
Observational Model:	Case-Only
Time Perspective:	Other
Official Title:	Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome
Actual Study Start Date :	May 11, 2018
Actual Primary Completion Date :	April 1, 2019
Actual Study Completion Date :	September 13, 2019

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Bannayan-Riley-Ruvalcaba syndrome

Genetic and Rare Diseases Information Center resources: PTEN Hamartoma Tumor Syndrome

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

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.

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:	18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:	All
Sampling Method:	Non-Probability Sample

Study Population

Families of children with PTEN mutation that are enrolled in the RDCRN Contact Registry.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Inability to provide informed consent and complete survey
Inability to read and understand English

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03680924

Locations

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United States, Florida
University of South Florida
Tampa, Florida, United States, 33612

Sponsors and Collaborators

University of South Florida

Boston Children's Hospital

More Information

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.

Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1488/

Hansen-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.

Nelen 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.

Pilarski 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. Review.

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Responsible Party:	University of South Florida
ClinicalTrials.gov Identifier:	NCT03680924
Other Study ID Numbers:	DSC 7907
First Posted:	September 21, 2018 Key Record Dates
Last Update Posted:	October 16, 2019
Last Verified:	February 2019

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Studies a U.S. FDA-regulated Drug Product:	No
Studies a U.S. FDA-regulated Device Product:	No

Keywords provided by University of South Florida:


PTEN phosphatase and tensin homology mutation

Additional relevant MeSH terms:

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Hamartoma Hamartoma Syndrome, Multiple Neoplasms	Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn

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