The International Fragile X Premutation Registry was created to facilitate and encourage Fragile X premutation research, including future medication and non-medication treatment and intervention studies that could positively impact your quality of life. Fragile X premutation-associated conditions include Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
The project was created in partnership with an international advisory committee of dedicated Fragile X professionals from some of the world’s most respected institutions. Below you’ll learn more about this amazing team, as well as how you and your family can participate.
Who Can Join?
- Fragile X premutation carrier.
- Relative without a Fragile X premutation: If you are 18 years or older, related to someone affected by Fragile X and you do not have a Fragile X mutation, you are welcome to join the registry. If you choose to enroll in the registry, you will be considered a family member control. Examples of a family member control include spouses, in-laws, siblings, or a son or daughter.
Individuals who may or may not be carriers — as reflected by known inheritance patterns, e.g., parent is a carrier — can enroll and designate that they have not yet been tested.
To Learn more and join the registry: