Adults with the Fragile X Premutation Needed for Registry

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.

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