Fragile X Syndrome Resources by Age

A gateway to resources both on our website and other trusted external websites, organized by age from birth through adulthood.

Premutation Topics

Traditionally, a carrier of a genetic condition is defined as a person who inherits an altered form of a gene but is asymptomatic or not at risk for nor has symptoms of the condition. However, in Fragile X this is different. Individuals with the Fragile X premutation may be at risk of developing Fragile X-associated conditions and disorders including Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Additional conditions associated with the Fragile X premutation are being further researched.

Reproductive Health

There is no one way to grow a family. Whether you know you carry a gene that can be passed on to your future children and want to explore your options or you simply don’t know where to start, we’re here to help with tips for family planning as well as the details of carrier screening, the reproductive options that exist, and their associated costs. Each state, clinic, and provider are different, so we strongly encourage you to speak with your doctors, clinics, or other agencies to learn the details of all the options available to you.

Research Topics

Download the Research 101 eBook for yourself or to share. Find opportunities to participate in clinical trials, studies, and surveys with MyFXResearch Portal. Learn about joining the International Fragile X Premutation Registry and adding your data to the STX209 project. And finally, get up to date on how Fragile X research data is being used to address critical needs in Fragile X research and treatment.

Research 101: What is Research?

What does research mean to the National Fragile X Foundation and what might it mean to you — individuals and families living with Fragile X? We believe research to be multifaceted and quite vague, which is why we’ve broken down the most important aspects relevant to Fragile X syndrome. Learn more and download our free Research 101 ebook.

STX209 Reconsent Project

The National Fragile X Foundation, with the help of several professionals, has secured an agreement to obtain STX209 trial participant data through a reconsent process. We need a total of 150 participants. If your family was involved in the STX209 trials, please help expand your past effort — it will only take a few minutes. The original data has been unavailable for many years, and you can help us bring it back to the community, via the NFXF Data Repository, by providing consent to bring the data home!

Join the International Fragile X Premutation Registry

Clinicians, researchers, and family representatives from around the world have partnered with the NFXF to establish and maintain an online research participation registry for adults with the Fragile X premutation and family members who do not have a Fragile X mutation. Premutation carriers who have been diagnosed with or have symptoms of FXTAS or FXPOI, as well as carriers without these problems, are invited to participate. Learn more and become a part of this important research tool.

Participate in Research: MyFXResearch Portal

Research heroes are the thousands of people who volunteer every year for research—the first important step in developing new treatments, interventions, and methods for diagnosing or detecting disease. New treatments are approved each year; some are brand new products that have never been used and others are the same or similar to previously approved products. All of these treatments go through extensive review before becoming publicly available. Chronic migraines, Parkinson’s, irritable bowel syndrome, and rheumatoid arthritis are just a few examples of new treatments becoming available!

Browse for the research opportunity you’re interested in for full details, including additional requirements for participation.

Original Research Articles

The original research articles here were written by Fragile X professionals within the FXCRC and NFXF team to address critical needs in Fragile X research and treatment. These are open-access articles distributed under the Creative Commons Attribution License↗, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. This encourages collaboration, and they are commonly referenced by industry and other professionals working on Fragile X.

FORWARD MARCH

FORWARD-MARCH is the next step following a highly successful research study called FORWARD (Fragile X Online Registry With Accessible Research Database) that was started in 2012.

The FORWARD study created the largest database of information on FXS in the United States. Data from the FORWARD study is being used by researchers to learn about the lives of people with FXS. Thanks to families who contribute to FORWARD, researchers are learning about important things like medication use, behaviors, and development over time. These findings are shared with other researchers and clinicians to help develop targeted therapies and treatments.

Research Results

We are excited to share with you our roundup of some of the great research results that have been published thus far. We are committed to keeping the community up to date on research findings, taking time to reflect and celebrate successes in the field of Fragile X-associated conditions and disorders.

Find a Fragile X Clinic

Fragile X clinics provide medical services (including medication evaluations and consultations) supervised by a physician and supported by the latest medical, educational, and research knowledge available. Multidisciplinary services, such as genetic counseling and occupational, speech, language, and behavioral therapies, are also available either at the clinic or by referral.

Find a Contact Near You

Community is built into everything we do. Knowing there are others impacted by Fragile X out in the world and sharing your challenges and triumphs is incredibly empowering. We urge you to connect with others through the Community Support Network, as well as Facebook, Twitter, and Instagram. The advice, personal stories, and friends you make will keep you strong, competent, and confident in dealing with all things Fragile X. Our community network is comprised of three categories of support, which are all available in our contact search: NFXF chapters, community partners, and community contacts, who are dedicated volunteers who are available to answer questions and provide educational and emotional support, especially to those with newly diagnosed children.