NCT03680924

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
13

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2018

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 11, 2018

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

September 18, 2018

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 21, 2018

Completed
6 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2019

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 13, 2019

Completed
Last Updated

October 16, 2019

Status Verified

February 1, 2019

Enrollment Period

11 months

First QC Date

September 18, 2018

Last Update Submit

October 15, 2019

Conditions

PTEN Gene Mutation

Keywords

PTENphosphatase and tensin homology mutation

Outcome Measures

Primary Outcomes (1)

  • 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

Eligibility Criteria

Age18 Years+
Sexall
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of South Florida

Tampa, Florida, 33612, United States

Location

Related Publications (5)

  • 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.

    PMID: 25288137BACKGROUND

  • Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2025 Aug 7]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, 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/

    PMID: 20301661BACKGROUND

  • 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.

    PMID: 28526761BACKGROUND

  • 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.

    PMID: 10234502BACKGROUND

  • 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.

    PMID: 18972196BACKGROUND

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 18, 2018

First Posted

September 21, 2018

Study Start

May 11, 2018

Primary Completion

April 1, 2019

Study Completion

September 13, 2019

Last Updated

October 16, 2019

Record last verified: 2019-02

Locations

US(1)