What is the premutation registry and how can I join?

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?

Age: 18+

  • 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: