Rare Disease Day is observed every year on 28 February (or 29 in leap years -- the rarest day of the year). Since 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse – and united in purpose.
About Fragile X Syndrome
Fragile X syndrome is one of the most common of the rare diseases. It is also the most common inherited cause of autism and intellectual disabilities, occurring when a single gene on the X chromosome shuts down and fails to produce a protein vital for normal brain development. This can lead to developmental delays, intellectual disabilities, and features of autism. There is no cure for Fragile X – yet.
Partnerships to Find Treatments and Ultimately A Cure
Collaboration is essential to advance Fragile X research. FRAXA Research Foundation partners with many non-profit, academic, and industry organizations to accelerate progress towards effective treatments and a cure for Fragile X syndrome. Below you can find some examples of our many working partnerships.
WuXi AppTec is a global company united around a future where every drug can be made and every disease can be treated. To celebrate Rare Disease Day, WuXi AppTec has released a new video featuring 7 rare disease community leaders, highlighting the powerful impact of science and collaboration in the ongoing fight to tackle rare diseases. FRAXA president and co-founder Katie Clapp is joined on this video by Stan Crooke of n-Lorem Foundation, Pat Furlong of Parent Project Muscular Dystrophy, Annette Bakker of the Children’s Tumor Foundation, Duchenne Muscular Dystrophy advocate Hawken Miller, and Cyndi Zagieboylo of the National MS Society.
GEXVal, a Japan-based pharmaceutical company, is developing a new medication for Fragile X syndrome. GEXVal’s drug candidate GXV-001 was successfully tested at the FRAXA Drug Validation Initiative (FRAXA-DVI), a pre-clinical testing resource in Chile established by FRAXA in 2011, and is moving forward into Fragile X clinical trials.
Shionogi and Tetra Therapeutics
Shionogi (based in Japan) and Tetra (based in the US) are pharmaceutical companies developing a novel medicine which has already shown significant cognitive and behavioral effects in people who have Fragile X syndrome. Large scale clinical trials are now underway.
Ulysses Neuroscience, based in Dublin, Ireland, is a biotech company developing therapies for Fragile X and other neurodevelopmental disorders. FRAXA is working with Ulysses to test their investigational new drugs in Fragile X mice at FRAXA-DVI.
Healx, a drug discovery company in Cambridge, England, aims to discover repurposed drug treatments for 100 rare diseases by 2025. Fragile X syndrome is the flagship of their program, in partnership with FRAXA.
Purposeful, a drug repurposing startup based in Athens, Greece, is working on therapies for many rare diseases. Their most advanced program is a combination treatment for Fragile X which is just completing clinical trials, in collaboration with FRAXA.
FRAXA-DVI - Advancing Fragile X Research
The FRAXA Drug Validation Initiative (FRAXA-DVI) is a vital resource in the mission to find new treatments for Fragile X syndrome. This initiative has provided rapid, cost-effective, objective preclinical testing of hundreds of potential Fragile X treatments. FRAXA-DVI uses in-vivo behavior batteries and peripheral biomarker platforms to validate investigational new drugs and repurposed available compounds in Fragile X mice. FRAXA Research Foundation has funded this resource since 2011.
FRAXA is Committed to Advancing Research
FRAXA Research Foundation is committed to advancing research on Fragile X syndrome. Through partnerships and research grants, we strive to offer hope to individuals and families affected by Fragile X syndrome on Rare Disease Day and every day!