Fragile X Syndrome Timeline

30 Years of Outstanding Fragile X Research - The FRAXA Timeline

Discover the evolution of Fragile X research through the work of FRAXA Research Foundation, which is dedicated to finding effective treatments and ultimately a cure for Fragile X syndrome. This interactive timeline showcases milestones, breakthroughs, and key events that have shaped our evolving understanding of Fragile X syndrome.

Explore these pivotal moments to understand the unwavering dedication of researchers and FRAXA's far-reaching impact on countless lives. Join us as we look ahead to a future full of hope and promise for individuals and families affected by Fragile X.

1991

Scientists Discover the Cause of Fragile X

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.Ben Oostra, Stephen Warren, David Nelson, and others find a mutated gene on the X chromosome. They name the gene "FMR1" and the mutation site "FRAXA". This mutation prevents FMR1 from producing its normal protein, causing Fragile X syndrome.

1991

1994

Parents Found FRAXA Research Foundation to Find Treatments and Ultimately a Cure

Katie Clapp, Michael Tranfaglia, and Kathy May establish FRAXA to drive research forward to improve the lives of families.

1994

1995

FRAXA Funds First Gene Therapy Research

FRAXA funds the first research to adapt gene therapy for Fragile X, led by Jude Samulski at the University of North Carolina.

1995

1995

FRAXA Goes to Washington, DC

FRAXA begins the first advocacy ever done in Washington, DC to accelerate Fragile X research and awareness. The U.S. Congress acknowledges the critical need for Fragile X research for first time.

1995

1998

FRAXA Puts Fragile X on the Internet

FRAXA launches the first website dedicated to Fragile X. FRAXA also launches “the listserv” -- the first online Fragile X community was a global lifeline for many.

1998

1998

FRAXA Funds Its First Clinical Trial

Randi Hagerman, MDRandi Hagerman receives a FRAXA grant for a clinical trial to see if melatonin can help Fragile X syndrome patients sleep at the University of California at Davis.

1998

1999

FRAXA Investigators Discover Cause of FXTAS

Paul Hagerman, PhDDuring their FRAXA-funded research Paul Hagerman and Flora Tassone make a surprise discovery: the cause of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

1999

2000

Success in Washington!

President Clinton celebrating Children's Health ActThe Children’s Health Act of 2000 launches Fragile X Research Centers of Excellence which still exist today. The US Senate establishes National Fragile X Awareness Day after tireless efforts of FRAXA advocates.

2000

2005

FRAXA's Scientific Advisory Board Welcomes Three Nobel Laureates

FRAXA's Scientific Advisory Board expands to include three Nobel Prize winners. Two of these Nobel Laureates -- Eric Kandel and Susumu Tonegawa -- embark on research to cure Fragile X with grants from FRAXA

2005

2005

Big Pharma Joins the Race to Cure Fragile X

Roche and Novartis Pharmaceuticals both start investing millions to develop treatments for Fragile X after attending a Fragile X Banbury meeting hosted by FRAXA.

2005

2010

New York Times Front Page Reports Successful Clinical Trial

Andy Tranfaglia and his mom, Katie Clapp on the cover of the New York Times. Photo by Bryce Vickmark brycevickmark.comThe success of a clinical trial, featured on Bloomberg News, NPR, and the front page of the New York Times, marks a turning point for public awareness of Fragile X syndrome and the importance of continued research.

2010

2011

FRAXA Launches Drug Validation Initiative in Chile

FRAXA-DVI laboratoryFunded continuously until today, FRAXA-DVI is a standard platform to test potential Fragile X treatments. It has completed preclinical testing of 100+ compounds. Successful candidates can move forward to clinical trials.

2011

2016

First Use of Artificial Intelligence to Tackle Fragile X

Healx team 2018FRAXA funds University of Cambridge (England) startup Healx to use Artificial Intelligence to identify the most promising available drugs to treat Fragile X syndrome.

2016

2020

Success of Clinical Trial of PDE4D Inhibitor

A Phase 2 clinical trial funded by FRAXA and Tetra Therapeutics reports significant cognitive improvement in adults with Fragile X syndrome, marking the first unequivocally positive trial result after years of efforts.

2020

2021

FRAXA Launches World Fragile X Day

FRAXA launches World Fragile X Day to honor individuals living with Fragile X and raise global awareness.

2021

2022

FRAXA Launches Drug Testing Platform in Belgium

FRAXA funds a collaboration between Kantify, an Artificial Intelligence company, and the lab of Frank Kooy to build a new drug testing platform to evaluate treatments.

2022

2023

FRAXA Investigator's Serendipitous Discovery Opens the Door to a Cure with ASO Therapy

Joel Richter

While working on a FRAXA grant to pinpoint biomarkers, Joel Richter and colleagues at UMass Chan Medical School discovered a path to Fragile X treatment with antisense oligonucleotides (ASOs).

2023

2024

Phase 3 Fragile X Clinical Trials are Underway

Pivotal clinical trials are accepting hundreds of participants for Tetra Therapeutics' PDE4D inhibitor and Zynerba Pharmaceuticals' CBD gel across the U.S. and in several other countries. First results are expected in 2025.

2024

2024

Biotech Company Invests Millions to Develop ASO Treatment for Fragile X

QurAlis partners with UMass Chan Medical School to develop antisense oligonucleotide (ASO) treatment for Fragile X syndrome. The goal: a definitive treatment for patients of all ages.

2024