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Trial record 2 of 6 for:    PTEN hamartoma tumor syndrome

Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

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ClinicalTrials.gov Identifier: NCT03680924
Recruitment Status : Recruiting
First Posted : September 21, 2018
Last Update Posted : February 7, 2019
Sponsor:
Collaborator:
Boston Children’s Hospital
Information provided by (Responsible Party):
University of South Florida

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.


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Study Type : Observational
Estimated Enrollment : 100 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
Estimated Primary Completion Date : April 2019
Estimated Study Completion Date : April 2019





Primary Outcome Measures :
  1. 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.



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:

  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

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


Contacts
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Contact: Miranda Williams, MS 8133969155 Miranda.Williams@epi.usf.edu

Locations
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United States, Florida
University of South Florida Recruiting
Tampa, Florida, United States, 33612
Contact: Miranda Williams, MS         
Sponsors and Collaborators
University of South Florida
Boston Children’s Hospital

Publications:
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Responsible Party: University of South Florida
ClinicalTrials.gov Identifier: NCT03680924     History of Changes
Other Study ID Numbers: DSC 7907
First Posted: September 21, 2018    Key Record Dates
Last Update Posted: February 7, 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