The National Fragile X Foundation has partnered with an advisory committee of international Fragile X professionals to create an international Fragile X premutation research registry. Registrants provide contact and basic medical background information so they can be recruited for future research projects that focus on understanding and treating Fragile X premutation-associated conditions, including FXTAS (Fragile X-associated tremor/ataxia syndrome) and FXPOI (Fragile X-associated primary ovarian insufficiency).
About the Survey
Who can participate?
Adults 18 or over with genetic testing showing premutation carrier status may be eligible to participate. Family members without Fragile X or the premutation may be eligible to enroll as a family member control.
What will happen in the study?
If you are eligible to enroll in the International Fragile X Premutation Registry, you will be asked to complete an online form that includes contact information, demographics, and some limited medical history. There are two additional optional sections that ask more detailed demographic and health-related questions. You do not have to complete these sections to be enrolled in the registry.
Once registered, you are ultimately connected to a large international network of researchers and research teams studying the Fragile X premutation, and will be provided with yearly updates about research developments in the field. Registrants may also be contacted by the registry team about research studies they may be eligible to participate in, including future treatment studies. (NFXF will not have access to your private, personal information.)
What are the good things that can happen from this research?
Participating in this registry will help researchers better understand the presentation and prevalence of the premutation condition. By participating in this research, you may help researchers better understand the premutation condition and any associated disorders.
What are the bad things that can happen from this research?
There is always the risk of loss of confidentiality. The study team will do everything possible to minimize the risk by keeping your information safe and de-identified.
There may be other risks that we do not know about yet.
Will I or my child be paid to complete this survey?
You will not be paid to participate in this study.
contacts
Jessica Famula
UC Davis MIND Institute
jfamula@ucdavis.edu
David Hessl, Ph.D.
Study Principal Investigator
UC Davis MIND Institute
drhessl@ucdavis.edu
Hilary Rosselot
NFXF
hilary@fragilex.org
Robert Miller
NFXF
robby@fragilex.org
Frequently Asked Questions
Yes, you may share approved posts from NFXF.
No, the study is available internationally as of February 3, 2021.
Our Most Recent Opportunities
Study: Focus Group on Difficulty with Changes and Rigid/Inflexible Behaviors in Fragile X Syndrome
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.
Study: Adult Fragile X Premutation Carriers Needed for Registry
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.
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 ...
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.
Featured image by Gerd Altmann from Pixabay, combined with an image by Pexels from Pixabay
