Fragile X premutation registry launches internationally (video)

International Fragile X Premutation Registry is a collaboration between the UC Davis MIND Institute and the National Fragile X Foundation

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The UC Davis MIND Institute and the National Fragile X Foundation are working to encourage and accelerate research about the genetic condition with a new registry. The International Fragile X Premutation Registry is welcoming participants worldwide who are interested in taking part in research studies.

“The registry was created to facilitate and encourage fragile X premutation research around the world, including future medication and non-medication treatment and intervention studies that could positively impact quality of life,” said Linda Sorensen, executive director of the National Fragile X Foundation.  

The goal is to build a contact list containing a large, diverse group of people interested in contributing to research by taking part in clinical trials and other studies. 

David Hessl
Psychologist and Clinical Professor David Hessl is leading registry efforts for the MIND Institute

“This aim is especially important for premutation carriers with the neurodegenerative disease fragile X-associated tremor/ataxia syndrome (FXTAS),” said David Hessl, a psychologist and clinical professor in the UC Davis Department of Psychiatry and Behavioral Sciences who is leading registry efforts for the MIND Institute. “FXTAS, which is characterized by progressive loss of motor function and balance, as well as cognitive changes, currently has no cure or specific treatment.”

What is fragile X syndrome?

Fragile X syndrome (FXS) is a genetic condition. The “X” refers to the X chromosome, where the altered gene (FMR1) that causes it is located. Symptoms vary, but males are more severely affected, and are more likely to have intellectual disabilities and autism traits and distinguishing physical characteristics like long faces, larger ears, unusually flexible fingers and flat feet. People with FXS also tend to be very social and friendly and have strong visual or long-term memory.

FXS affects approximately 1 in 3,600 to 4,000 males and 1 in 4,000 to 6,000 females. The UC Davis MIND Institute’s Fragile X Research and Treatment Center is a world leader in the field.

What is a premutation carrier?

A premutation carrier also has an altered form of the FMR1 gene, through the mutation is smaller than in those with fragile X syndrome. Carriers may pass on an expanded mutation to a child or grandchild, causing fragile X syndrome. Some carriers also develop fragile X-associated conditions. Those include primary ovarian insufficiency, which affects fertility (FXPOI) and FXTAS, affecting mostly males over age 50. FXTAS was discovered at the MIND Institute in 2001.

“When there are new treatments developed for FXTAS and other premutation-associated conditions, we need to be prepared and we’d like people from many backgrounds to have an opportunity to benefit, or to participate in a clinical trial if they’re eligible and interested.”

— David Hessl

In contrast to the relative rarity of fragile X syndrome, an estimated 1 in 151 females and 1 in 468 men are premutation carriers.

“To date, there are no treatments to cure or reverse premutation-linked conditions like FXTAS and FXPOI,” said Sorensen. This registry can expedite treatment development by centralizing information for individuals who are interested in participating in future research.”

How will the registry work?

Anyone 18 or older who is a premutation carrier, anywhere in the world, is encouraged to sign up for the registry. Family members of those affected by fragile X, but who are not premutation carriers themselves are also encouraged to sign up, to serve as research control participants. If individuals are unsure if they are a carrier, but it’s a possibility given the family pattern, they may also register and indicate that they haven’t been tested yet.

The registry enrollment link is on the National Fragile X Foundation website, and the database will be managed by UC Davis, where it will be protected in compliance with U.S. and European patient privacy regulations.

Researchers interested in recruiting participants from the registry will notify the registry team and advisory committee, which includes experts and fragile X family representatives, and submit a formal application for review. If approved, the registry team will notify registry participants about the research. There is no obligation to take part in any studies. Researchers will not be given registrants’ information.

A source of knowledge and connection

There are plans to periodically update registry participants about the latest research that may be of interest.

“We are also creating a reliable source for information about the premutation based on the most recent research in our field, and a source of connection for carriers and their families,” said Hessl. “We’re planning a newsletter for registrants at least once a year, and I’m hoping that these communications and sharing our knowledge will help build community and hope for future interventions.”

A large group of fragile X experts has worked to create the registry. In addition to the MIND Institute and the National Fragile X Foundation, there are researchers and clinicians from the University of Colorado, the University of Michigan, Rush University, Emory University, RTI International, the Fragile X Association of Australia, the Fragile X Alliance Inc., the Walton Centre in the UK and the Congenial Malformations and Dysmorphology, Universidad Del Valle, in Colombia.

“Knowledge is power, and this registry is a great first step to contribute to our knowledge base,” said Sorensen.

Current fragile X-related studies at the MIND Institute

At the UC Davis MIND Institute, world-renowned scientists engage in collaborative, interdisciplinary research to find the causes of and develop treatments for the disabilities that can be associated with autism, attention-deficit/hyperactivity disorder (ADHD), fragile X syndrome, 22q11.2 deletion syndrome, Down syndrome and other neurodevelopmental disorders. For more information, visit