About the Study
Why are we doing this research?
Researchers at Stanford University are conducting a clinical research study to learn about brain development in relation to behavior and cognition in adults with intellectual and developmental disabilities.
Who can participate?
Males between the ages of 18 and 30 years with a diagnosis of Fragile X syndrome (full mutation) may be eligible to participate.
What will happen in the study?
If the individual qualifies and decides to be in this research study, we request one phone screening visit, a two-day visit to Stanford (located in Stanford, Calif.) and one phone call check-in visit.
- Total in-person visits: 1
- Total phone visits: 2
- Total hours of study participation: Up to 15 hours over multiple days
The following is a list of some of the study procedures that will happen during the study:
- Comprehensive cognitive and behavioral assessments
- Parent questionnaires
- PET/MRI scan
- Blood draw (equivalent to 2 tablespoons)
- Saliva sample
- One time IV injection of imaging agent (up to 10 mCi)
What are the good things that can happen from this research?
- Discussion and written report of results from the evaluation
- High-resolution images of the brain from PET/MRI scan
- Access to ongoing updates about outcomes of the study
What are the bad things that can happen from this research?
There are risks, discomforts, and inconveniences associated with any research study. Some of the risks include:
- You may experience warming and/or tingling sensation during the scan. You can inform the picture taker at any time to stop the scan if you are uncomfortable.
- You may listen to loud noises during the scan, but we provide you earplugs to minimize the noise. We can also minimize this discomfort through video and CD practices involving simulation of noises produced by the MR scanner.
- Mild discomfort, bruising, or bleeding at the injection site. It feels like a pinch when you receive the IV shot. This is common for any IV shots that you take at a clinic. Our trained staff will make sure the injection is less painful using an icepack as necessary.
- A small amount of radiation exposure which is essential to obtain the desired scientific information. It is comparable to a transatlantic flight.
There may be other risks that we do not know about yet.
Will you/your child be paid to be in this research study?
At the end of the completion of all study procedures, participants will receive compensation in the form of a gift card (one time).
Expenses related to travel and accommodation will need to be approved prior to scheduling. Approved travel arrangements will be paid for from the study account. This will cover the cost for the study participant and an accompanying family member.
The study staff will schedule, arrange, and pay for travel and accommodation based on the availability of the participant and accompanying family member.
Frederick T. Chin, PhD
Stanford University-School of Medicine
Our Most Recent Opportunities
The Development in Neurogenetic Disorders Lab at the University of Illinois at Urbana-Champaign is conducting a research study to learn about what skills support early language development.
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.
NFXF has partnered with an advisory committee of international fragile X professionals to create an international fragile X premutation research registry. Find out how to participate.
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...