This research project is led by Paloma Boeck, a master’s student of human genomics and genetic counseling at Keck Graduate Institute, and is supervised by Emily Quinn, an associate program director and certified genetic counselor at Keck Graduate Institute. The goal of this study is to explore what information is considered most important to recently identified fragile X premutation carriers. This information can help educate health care providers regarding what information patients want to know more about.
About the Study
Who can participate?
To be in this study, you must be 18 years old or older, English-speaking, and you must have been identified as a fragile X premutation carrier anywhere between January 1, 2018, until the present.
What will happen in the study?
During this study, you will be asked to complete an online survey and you may be contacted for a follow up interview if you meet the eligibility criteria of the study. The online survey will focus on background information and how you found out that you were a fragile x premutation carrier. This survey will take about five minutes of your time.
After the survey you may be contacted for an interview. You will be contacted based on your choice, either a phone call or email, to schedule the interview. This interview will focus on what information you remember about your results, what was most important for you at the time of your results, how you were given your results, and what information you wanted to know more about. This interview will be through a communication program called Zoom where you can talk through a video or a call. The interview will take about one hour of your time.
What are the good things that can happen from this research?
This study will add to the growing body of research for fragile X premutation carriers.This study may also help genetic counselors direct information based on what patients find is most important to them.
What are the bad things that can happen from this research?
The risks that you run by taking part in this study are minimal. The risks include feeling uneasy while talking about your personal results, unusual inconvenience and/or sharing possibly damaging personal information. The risks will be controlled by removing your personal identifying information and securing information from the interview on a secure password protected device.
Will I be paid to participate in this study?
No, you will not be directly compensated for participating in this study.
Our Most Recent Opportunities
Survey: Cannabidiol (CBD) Use with Fragile X Syndrome
A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with »
Survey: How has the COVID-19 Pandemic Impacted Fragile X Families
Researchers at Teachers College at Columbia University are conducting a survey to learn about the impact that the COVID-19 pandemic has had on multiple aspects of the lives of people with Fragile X Syndrome. We want to see how the Fragile X community specifically was impacted so that we can have a more focused plan of action for helping these families. The overall goal of this survey is to distribute our findings to medical professionals so that they can see what gaps have been created in their practices from the pandemic.
Exploring the Most Important Information for New Premutation Carriers
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.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
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 »
Clinical Research Study: Brain Development in Relation to Behavior and Cognition
Males between the ages of 18 and 30 years with a diagnosis of Fragile X syndrome (full mutation) may be eligible to participate.
Parent Survey: Literacy Skills in Children with Fragile X Syndrome
The Research in Neurodevelopmental Disabilities Lab at the Waisman Center at the University of Wisconsin-Madison is looking for parents of male or female children 6 to 17 years old with Fragile X syndrome for an online survey.
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