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
Study: Autonomic and Sensory Functioning in Infants with FMR1 Conditions
Dr. Jane Roberts and the research staff at the Neurodevelopmental Disorders Laboratory at USC are conducting a research study to learn about the development of infants with Fragile X syndrome and Fragile X premutation over the first few years of life.
Survey: Research experiences in Fragile X Families
The Brain and Biomarker Lab at the University of Oklahoma is conducting a survey to learn about experiences with research, particularly biomedical research, in families with Fragile X syndrome (FXS).
Study: Language Study for Children and Adolescents with Fragile X syndrome
Researchers at the University of Wisconsin-Madison and the University of Massachusetts-Amherst are conducting a study to learn about links between learning and language in Fragile X syndrome.
Survey: Fragile X Nutrition Survey
The University of Wisconsin-Madison is conducting a survey to learn about associations between infant feeding and neurodevelopment in children with Fragile X syndrome.
Clinical Trial: Phase 2B/3 Studies of BPN14770 in Fragile X syndrome
Tetra Therapeutics is conducting a two randomized, placebo-controlled studies of BPN14770/zatolmilast to learn about the experimental drug’s safety and efficacy for males ages 12-45.
Survey: Developing a Gold Standard for Tracking Adult Functional Outcomes in Developmental Disabilities (AFS Study)
University of Pittsburgh is conducting this research to develop the Adult Functioning Scale (AFS), a new survey being designed to capture outcomes in the areas of social functioning, employment, independence, and satisfaction for individuals with various developmental disorders.
Featured image by Gerd Altmann from Pixabay, combined with an image by Pexels from Pixabay