The future offers hope for people living with Fragile X syndrome. Collaborations between the Fragile X community and other disability organizations help to provide understanding and advancement of research to bring effective treatments to families. FRAXA’s Dr. Mike Tranfaglia talks with Autism Science Foundation’s Allison Singer about the importance of their collaboration as we look forward to the next 10 years.
Read moreAuthor: FRAXA Research Foundation
GABA-A Receptor in Fragile X Syndrome
With $210,000 in grants from FRAXA over 1999-2010, Dr. Frank Kooy has studied the involvement of the GABAergic system in Fragile X syndrome, at the University of Antwerp, Belgium.
Read moreCharacterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS
The researchers are developing next-generation drugs called peptidomimetics, using the functional features of FMRP. If they succeed, the hope is that we will have new drugs that could make up for the loss of FMRP, thus treating Fragile X syndrome.
Read moreBruins 50/50 Benefits Fragile X Research
As the Bruins took to the ice to score a big win over the Detroit Red Wings, FRAXA volunteers took to the concourse selling 50/50 tickets to fans. This incredible opportunity, made possible by the Boston Bruins Foundation, raised a grand total of $28,040 which was split between FRAXA and one lucky winner!
Read moreFX-Learn Clinical Trial for Children with Fragile X
Thirteen centers across the US enrolled children with Fragile X in a large-scale clinical trial of Novartis AFQ056. Dr. Elizabeth Berry-Kravis and colleagues aim to show that this targeted treatment — an mGluR5 blocker for Fragile X which failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.
Read moreCannabinoids as a Treatment for Fragile X Syndrome
Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.
Read moreForbes, “Clinical Trials Expand For AI-Designed Drug To Treat Fragile X Syndrome”
British startup Healx has secured FDA approval for a phase 2a clinical trial of an AI-discovered compound that could help manage the symptoms of the genetic disorder Fragile X syndrome. The start of the trial marks another milestone in the use of artificial intelligence to help find new applications for existing drugs by mining patient records and research databases.
Read morePurposeful and FRAXA Partnership Leads to Clinical Trial
Can a combination of drugs make a meaningful difference for people with Fragile X? A new clinical trial is going to find out. 15-20 adult men with Fragile X will be included in this trial to test the effects of an available drug and a nutritional supplement taken together.
Read moreMaking Drug Development Efficient Through Community-Based Collaboration
FRAXA co-founders Katie Clapp and Mike Tranfaglia, spoke virtually at the 5th Pharma Pricing Reimbursement and Market Access 2021 conference.
In this session, facilitated by Nadia Bodkin, PharmD, MS, from the Rare Advocacy Movement, Katie and Mike were joined by Christopher U. Missling, PhD, President and CEO of Anavex Life Sciences Corp. to discuss the collaboration between FRAXA and Anavex as a case study example to help raise awareness amongst others in the rare disease industry of these types of collaborations between advocacy and industry.
Read moreMeet Matthew!
Meet #FriendofFRAXA Matthew! He is in his final year of school and has always been enthusiastic about his education. He has faced each day with a positive attitude while being friendly and outgoing. Those who meet Matt say he leaves a lasting impression on them. He has been called “The Mayor”, as everyone knows and remembers Matthew where ever goes.
Read more2021 Fragile X Research Grants Funded by FRAXA Research Foundation
Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.
Read moreInhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X
All cells have a kind of housecleaning service which sweeps away genetic errors. This is called nonsense-mediated mRNA decay (NMD). With a previous FRAXA grant, this team discovered runaway NMD in cells of Fragile X patients. It’s not yet known how this impacts people with Fragile X. With this grant, Dr. Maquat and Dr. Kurosaki will test drugs which can bring NMD back to normal levels.
Read moreExploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models
A gene’s job is to produce a protein. In Fragile X syndrome, the FMR1 gene is mutated and cannot make FMRP, a protein which shapes connections between nerve cells (neurons) in the brain. These connections are the basis of learning and memory. This team has discovered a mechanism involving FMRP that is absolutely essential to control the connections between neurons. These connections are the basis of learning and memory. They will now test available drugs which directly target this mechanism, to see if they can treat Fragile X syndrome.
Read moreMeet Chloe!
Meet #FriendofFRAXA Chloe! She is a bright girl who loves to make a joke and see people smile! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Read moreContribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome
The research team of Brian Christie, PhD and Marie-Eve Tremblay is developing ways to balance hormones, including drugs like metformin and changes in diet, which could not only reduce hunger and obesity, but ultimately also improve learning and behavior in Fragile X syndrome.
Read more20 Years of Advancing Fragile X Research: Progress Toward a Cure
Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.
Read moreMeet Noah!
Meet #FriendofFRAXA Noah! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Read moreTetra’s Fragile X Clinical Trial – The Most Successful So Far
Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.
Read moreAlternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome
Explore groundbreaking research by the University of Massachusetts Medical School and Rush University Medical Center on alternative splicing in white blood cells as a biomarker for Fragile X syndrome, paving the way for personalized treatment optimization through a non-invasive blood test.
Read moreRaising Awareness and Funds for Fragile X Research at Barre3
“It was a fun and sweaty way to bring the community together for a great cause and a great workout.” FRAXA thanks Katie Bolin for organizing this event and others during the month of July. We also send a special thanks to Katie Heaps, owner of Barre3 Belleview Station, for supporting the Bolin family and FRAXA.
Read moreFragile X Syndrome and Air Travel
If you wish to participate in a letter writing campaign you can copy the letter below and start sending it the CEOs listed at the bottom of the page.
Read moreMeet Jacob!
Meet #FriendofFRAXA Jacob! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Read moreMeet Benjamin!
Meet #FriendofFRAXA Benjamin! His smile lights up the room. He is a burst of energy! He gives the best hugs and loves to cuddle. If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Read moreFragile X Syndrome: In Pursuit of a Cure Webinar
A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22, 2021 to commemorate World Fragile X Day. This complimentary event is co-organized with WuXi AppTec. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of Fragile X, and to foster collaborations towards effective treatments and ultimately a cure.
Read more2021 FRAXA Awards – Recognizing Perseverance and Dedication
In conjunction with World Fragile X Day 2021, FRAXA Research Foundation is proud to recognize its annual award recipients. This year’s recipients exemplify the perseverance and dedication that has made FRAXA a global leader in Fragile X research for nearly 30 years. We are fortunate to partner with these individuals on research, community support and awareness efforts.
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