Finding a Cure for Fragile X
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.
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We are thrilled to announce FRAXA Research Foundation’s most significant and unique matching challenge of the year, thanks to the Robert & Ardis James Foundation. This challenge will help us bring top new talent to Fragile X research.
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The 16th Annual Fragile X Poker Run took place July 31 – August 2, 2021 in North Carolina. The generosity of the participants raised nearly $29,000 for FRAXA and Fragile X Research!
Great family and friends from 10 different states attended the event, one friend even came from Israel!
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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.
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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!
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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.
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After a one year hiatus, due the COVID-19 pandemic, the Callum Cup made a triumphant return last month. This annual intra-club charity match is the marquee event of the Millburn FC soccer calendar. The game being played in honor of Callum Murphy, the son of Andrew Murphy, one of the club’s goalkeepers.
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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.
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I scream, you scream, we all scream for ice cream! That’s what over 100 people said on Sunday, September 26 when the Lancaster Sweet Shoppe in Lancaster, Pennsylvania donated all of its proceeds from the day to FRAXA Research Foundation, in honor of my son, JT. All said and done, we are investing $15,205.30 in FRAXA’s work.
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Healx’s AI-driven approach makes finding the right combination therapies more efficient, cost-effective, and rapidly ready for testing at FRAXA-DVI. It was this successful process that has brought Healx to its recent announcement sharing that it has received Investigational New Drug (IND) approval from the US Food and Drug Administration (FDA) for the Phase 2a clinical study of HLX-0201.
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ell Reports has published the results of the study “Correction of Amygdalar Dysfunction in Rat Model of Fragile X Syndrome” by FRAXA Investigator Dr. Sumatra Chattarji and his team at the National Centre for Biological Sciences in Bangalore, India. The researchers investigated the synaptic basis of deficient conditioned fear and its reversal in Fragile X syndrome rats.
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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 upcoming trial, which will test the effects of an available drug and a nutritional supplement taken together.
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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.
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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.
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Derry, New Hampshire served as the picturesque location for the 7th Annual 5K Walk for Fragile X syndrome and Raffles to support FRAXA Research Foundation. On September 12, 2021, around 50 individuals came together to show their support and make a difference in the lives of those with Fragile X syndrome. This year’s walk, which included raffle drawings with baskets and gift cards thanks to the generosity of local businesses and friends, raised over $3,200 for FRAXA to support the funding of effective treatments and ultimately a cure for Fragile X.
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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.
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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.
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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.
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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.
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Zynerba has announced it is now recruiting subjects for a large-scale Phase 3 clinical trial (RECONNECT) of Zygel. Twenty-five sites across the United States, Australia, the UK and Ireland are recruiting children and adolescents with Fragile X syndrome for this randomized, double-blind, placebo-controlled, multinational study, details below.
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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.
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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.
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There are many ways research produces discoveries, and all of them include a process of steps that build on each other. When an exciting new avenue appeared with potential for Fragile X syndrome, FRAXA stepped up to fund it. We now see the results of this grant and are excited to share them with you. The importance of different types of models have been shared and discussed over many years. We are now adding a “brain organoid” model to this group, and the potential behind it is really exciting.
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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.
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The Pierce Family Fragile X Foundation helping to fund a joint grant to the University of Massachusetts Medical School and Rush University Medical Center in exploring biomarkers to measure whether a treatment is helping and determine how to optimize treatment for each individual.
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