Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome

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.

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.

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