Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

PTEN Gene Mutation Clinical Trial

Official title:

Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03680924
• Other study ID #: DSC 7907
• Status: Completed
• Start date: May 11, 2018
• Est. completion date: September 13, 2019

Study information

• Verified date: February 2019
• Source: University of South Florida
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 13
• Est. completion date: September 13, 2019
• Est. primary completion date: April 1, 2019
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Hamartoma Syndrome, Multiple
• PTEN Gene Mutation

Locations

Country	Name	City	State
United States	University of South Florida	Tampa	Florida

Sponsors (2)

Lead Sponsor	Collaborator
University of South Florida	Boston Children’s Hospital

Country where clinical trial is conducted

United States, 

References & Publications (5)

Eng C. 1993. PTEN Hamartoma Tumor Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Ledbetter N, Mefford HC, Smith RJ, Stephens K, editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle.

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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