Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

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.

Study Overview

• Status: Completed
• Conditions: 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 Type: Observational
• Enrollment (Actual): 13

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A
• Genders 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.

Description

Inclusion Criteria:

1. 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
2. Enrollment in the RDCRN Contact Registry

Exclusion Criteria:

1. Inability to provide informed consent and complete survey
2. Inability to read and understand English

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	3 months

Collaborators and Investigators

• Sponsor: University of South Florida
• Collaborators: Boston Children's Hospital

Publications and helpful links

General 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, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. 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. doi: 10.1038/sj.ejhg.5200289.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): May 11, 2018
• Primary Completion (Actual): April 1, 2019
• Study Completion (Actual): September 13, 2019

Study Registration Dates

• First Submitted: September 18, 2018
• First Submitted That Met QC Criteria: September 20, 2018
• First Posted (Actual): September 21, 2018

Study Record Updates

• Last Update Posted (Actual): October 16, 2019
• Last Update Submitted That Met QC Criteria: October 15, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Keywords: PTEN; phosphatase and tensin homology mutation
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Neoplastic Syndromes, Hereditary; Neoplasms, Multiple Primary; Neoplasms; Hamartoma Syndrome, Multiple; Hamartoma
• Other Study ID Numbers: DSC 7907

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No