Discovering Effective Treatments & A Cure for Fragile X Syndrome

Your support enables FRAXA Research Foundation to fund groundbreaking research and life-changing clinical trials.

How Does FRAXA Help?

FRAXA’s mission is to find effective treatments and ultimately a cure for Fragile X syndrome. We directly fund research grants and fellowships at top universities around the world. We partner with biomedical and pharmaceutical companies, large and small, to bridge the gap between research discoveries and actual treatments.

Every member of our staff and Board of Directors is a parent of one or more children with Fragile X, making our commitment to this cause deeply personal.

Treatments for Fragile X are likely to help people affected by autism, Alzheimer’s, and other brain disorders.

What is Fragile X Syndrome?

Fragile X syndrome (FXS) is the most common inherited cause of autism and intellectual disabilities. It affects 1 in 4,000 boys and 1 in 8,000 girls worldwide.

Fragile X syndrome occurs when a single gene on the X chromosome shuts down. This gene makes a protein needed for normal brain development. In FXS it does not work properly, the protein is not made, and the brain does not develop as it should.

Symptoms of Fragile X syndrome can include developmental delays, social anxiety, and learning disabilities, which vary between individuals.

The Latest from FRAXA

Dr. Thomas Maurin and Dr. Barbara Bardoni, Fragile X researchers and co-authors of a 2025 review on PDE inhibitors published in Cell Reports Medicine.

Fragile X and PDE Inhibitors: A Promising Path Forward for Brain Disorders

March 26, 2025

Fragile X syndrome research shows PDE inhibitors may improve brain function and behavior, with promise for related neurodevelopmental disorders.

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Shionogi’s EXPERIENCE Phase 3 Clinical Trial of Zatolmilast in Fragile X Syndrome

March 21, 2025

Shionogi’s EXPERIENCE clinical trials for Fragile X syndrome are nearing completion. Enrollment for the adult trial (EXPERIENCE-301) is now closed, while the adolescent trial (EXPERIENCE-204) is in its final phase. Learn more about the study, FRAXA’s role, and the open-label extension.

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Urgent Action Needed: Help Secure NIH Funding for Fragile X Research

March 13, 2025

NIH funding delays are threatening Fragile X research, putting critical studies and future treatments at risk. FRAXA Research Foundation and NFXF are urging Congress and the NIH to act now. Learn how you can help secure funding for Fragile X research.

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FRAXA's Impact to Date

Explore 30 years of outstanding Fragile X research.

$35.2M

Direct Investment in Fragile X Research

41

Teams Actively Researching Fragile X Syndrome

38

Pharmaceutical and Biomedical Partners

645

Fragile X Research Grants Awarded