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.

Yes, you may share approved posts from NFXF.

No, the study is available internationally as of February 3, 2021.

Our Most Recent Opportunities
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FXS TECH Study

Researchers at Rush University Medical Center are working on technology to improve how to identify and track progress in children living with autism and Fragile X syndrome. The study is currently recruiting children ages 18 months to 5 years, and 12-18 years.

Study: Web Intervention for Parents of Youth with Genetic Syndromes (WINGS)

Researchers at the Autism Assessment, Research, Treatment & Services (AARTS) Center at Rush University Medical Center are currently conducting a fully-virtual research study that is testing two telehealth interventions that are designed to help parents of children with genetic syndromes and intellectual disabilities gain strategies to manage challenging behaviors.

Brain & Behavior Study

Researchers at Purdue University are conducting a natural history research study to learn about brain activity in females, ages18-60 years, living with the FMR1 premutation.

Featured image by Gerd Altmann from Pixabay, combined with an image by Pexels from Pixabay