We are doing a study about treatment and help in the community for kids with a genetic disorder called PTEN hamartoma tumor syndrome (PHTS). The study has one short online survey that will be answered by people who take care of kids (ages 3-17) with PHTS. The answers will help us understand how accessible and available clinical care and research is to families with a kid that has PHTS.
For Diseases: PTEN Hamartoma Tumor Syndrome.
PTEN Hamartoma Tumor Syndrome (PHTS) is caused by a mutation in the PTEN gene, resulting in a variety of symptoms that range from increased cancer risk to cognitive and developmental delays. Some of the common symptoms related to neurocognition include macrocephaly (large head size), autism spectrum disorder, varying levels of intellectual disability, and decreased performance on processing speed and working memory tasks. In addition to neurocognitive deficits, individuals with PHTS may have other symptoms related to the condition, which include mucocutaneous lesions, vascular features, and gastrointestinal polyps.
Due to the fact that this condition effects many different body systems, individuals with PHTS often require care from medical professionals in several specialties. Unfortunately, because of how rare the condition is, patients and their families often have limited access to the necessary clinical resources, especially to specialists who are familiar with the condition. Patients with PHTS and their families are also interested and motivated to participate in research although there is a lack of studies enrolling patients with this diagnosis. Therefore, there is a significant need to better understand how families of children with PHTS get access to adequate patient care and clinical research in order to improve the availability of these resources to them.
The research aims are:
- Collect data on families with children affected by a PTEN mutation.
- Collect data on symptoms and current treatments/interventions of the most affected child
- Collect data to understand the factors contributing to access to clinical care.
- Collect data on the treatment option research performed by family.
- Collect data about family/relative/guardian and their relationship with the child with PHTS.
About This Study
The study aims to enroll 100 parents of individuals, between the age of 3 and 17, with PTEN Hamartoma Tumor Syndrome (PHTS) in a 3-month period. Participants meeting the inclusion criteria will be sent an email invitation that describes the study. A unique survey link will be generated for each participant and included in the email invitation. If the invitee wants to participate, he/she will follow the survey link in the email invitation which directs him/her to an IRB-approved online consent form. If he/she consents, he/she will be directed to the anonymous online survey. The survey will ask about: (1) basic clinical information about the child, such as diagnoses (both genetic and neurodevelopmental), level of functioning (estimated IQ); (2) physicians that the child sees or needs to see (3) how the family learns about clinical trials/research relevant to their child (4) basic demographics about the parent/caretaker completing the survey. After 1 week, another invitation will be sent to the invitees who have not yet participated. The study will be open for enrollment, and for participants to complete the survey, for 3 months. After 3 months, the study will close.
Data will be collected and stored by the Rare Diseases Clinical Research Network’s Data Management and Coordinating Center at the University of South Florida. Analysis will be done in collaboration with investigators from the Developmental Synaptopathies Consortium (DSC). At the conclusion of the study period, the data will be sent to the DSC. All data collected will be de-identified and sent to the designated Federal repository to be stored indefinitely.