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
Glenda M Espinal
UC Davis MIND Institute
gmespinal@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
Survey: What do you think about at-home research visits?
Dr. Schmitt and the Cincinnati Fragile X Center are conducting a survey to learn about potential barriers and advantages of conducting research visits in the home.
Study: Single Dose Study for Adult Women and Men with FXS
Dr. Craig Erickson at Cincinnati Children’s Hospital Medical Center is conducting a clinical trial to learn about if medication can change the brain’s response to sound, which may be abnormal in FXS.
Project WellCAST: Caregivers of Children with Fragile X Needed for a Research Study
The Kelleher Lab at Purdue University is conducting an NIH-funded clinical trial called Project WellCAST. Project WellCAST aims to understand how to best support caregivers of children with rare neurogenetic conditions, including Fragile X syndrome.
Study: Language, executive function, and quality of life of those with the Fragile X premutation
Researchers at the Waisman Center at UW-Madison are recruiting adults with the Fragile X premutation for a study on language, executive function, and quality of life.
Views and Experiences of Caregiver Coaching in Early Childhood Speech-Language Services: A Survey of Caregivers and Speech-Language Pathologists
The Research in Developmental Disabilities and Language Lab at The University of Wisconsin-Madison is conducting a survey to learn about you and your child’s experiences in speech therapy during early childhood.
Study: Behavioural and Emotional Outcomes in individuals with Neurodevelopmental Disorders (BEOND)
The Cerebra Network for Neurodevelopmental Disorders is conducting a survey to learn more about behaviour, social functioning, sleep, hyperactivity, mood, physical and mental health, as well as family functioning and wellbeing, and how these change over time.
Featured image by Gerd Altmann from Pixabay, combined with an image by Pexels from Pixabay