Thank you Talk Fragile X for hosting FRAXA Research Foundation’s very own Dave Bjork as a special guest on your podcast! We greatly appreciate the opportunity to share who we are and what we are doing to advance Fragile X research.
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Trofinetide Clinical Trial Results Published
New Zealand-Based Biotech Neuren Pharmaceuticals Has Published Successful Phase 2 Fragile X Clinical Trial. Trofinetide, given to adolescent and adult males with Fragile X syndrome, was shown to be generally safe and was well-tolerated. It also showed preliminary evidence of efficacy. This trial validated a new design which can be used in future trials.
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Scientists Find a New Way to Reverse Symptoms of Fragile X
FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.
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Meet Anthony
Meet #FriendofFRAXA Anthony! 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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Cholesterol-Dependent Changes in Fragile X Astrocytes
FRAXA Research Foundation has awarded $45,000 to Dr. Maija Castrén, of the University of Helsinki, Finland. Dr. Castren is working with Dr. Iryna Ethell, at the University of California at Riverside, to uncover mechanisms behind beneficial effects of lovastatin and cholesterol-dependent changes seen in the Fragile X brain.
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We’re All In This Together, One Day At A Time.
As many of you know, FRAXA’s mission is to find effective treatment options and ultimately a cure for Fragile X. Right now though, we know that we have to pivot. The Fragile X community has always been the center of our mission and today, there are other ways we can be helpful. We would like to host virtual gatherings that will benefit the Fragile X community and help us all feel connected.
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FRAXA is Thinking About You
We recognize that with the constantly changing COVID-19 situation around the world, this is an unprecedented time for everyone — a time that, for many, is filled with uncertainty. Like many of you, we have children or adults at home with Fragile X syndrome. We truly understand what a great challenge this can be and are here to lend a hand.
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Companies Move to Advance Potential Cognitive Treatment for Fragile X
Tetra Therapeutics and Shionogi announced plans to expand their partnership supporting BPN14770, a treatment candidate for disorders marked by cognitive and memory deficits, including Fragile X syndrome and Alzheimer’s disease. The agreement builds on an earlier collaboration between the two companies, and aims to further accelerate BPN14770’s development and potential marketing. It is currently in clinical testing in both Fragile X and Alzheimer’s patients.
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Ketogenic Diet Eases Symptoms in Fragile X Male Mice
The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.
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Meet Jackson!
Meet #FriendofFRAXA Jackson! 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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Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast
In this double-bill episode of The Genetics Podcast, Dr. Patrick Short talks to two key rare disease researchers in the field: Dr. Bruce Bloom, CCO of Healx, and Dr. Mike Tranfaglia, CSO of FRAXA. Both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing to aid in finding effective treatments for Fragile X.
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Considering Available Drugs for Fragile X: My Favorite Combination (So Far)
Which of the available drugs are best for fragile X? We tend to think of drugs according to their primary activity in the body, but very few drugs are totally selective and specific. There are differences between drugs in any given class, and these differences may be critical. Most drugs have “off-target” effects which are usually considered side effects, and it is these side effects which can have key advantages, in some cases.
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fNIRS to Measure Treatment Response in Young Children with Fragile X
FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.
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Less Active Immune System Evident in Fragile X Patients, Study Suggests
People with Fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications of immune dysregulation in Fragile X syndrome,” was published in the European Journal of Neurology.
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Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery
Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.
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A Tribute to Mary Higgins Clark
All of us here at FRAXA were very sad to learn that Mary Higgins Clark passed away on January 31, 2020, at the age of 92. Mary Higgins Clark was a tireless champion for Fragile X research. Mary put FRAXA on the map in 1997 when she made a $1 million donation over five years to solve the mystery of Fragile X syndrome (her words).
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Should You Participate in a Fragile X Clinical Trial?
A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.
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Meet Will!
Meet #FriendofFRAXA Will! 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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Thankful is an Understatement
To say we are thankful would be an understatement. Before 2019 came to a close, FRAXA Research Foundation set an ambitious goal of $750,000 to raise by the start of the New Year. We knew that it would require all hands on deck, and we knew that those of you who believe in our mission would rise to the occasion. The turnout we received was beyond what we could have hoped for.
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31 Nights of Light with FRAXA Research Foundation
Each year the Boston Prudential Center hosts a 31 Nights of Light event throughout the month of December. Each night, a different charity is selected and invited to the Center to raise awareness for their cause. This year, FRAXA Research Foundation was selected as one of the charities!
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Boston Bruins Fans and Volunteers raise $18,500 for Fragile X Research
For the 5th year in row, the Bruins Foundation chose FRAXA as a beneficiary of their 50/50 raffle to benefit a lucky charity. This year’s game was held on November 23, 2019 against the Minnesota Wild. Not only were the Bruins able to take home a win, but FRAXA received half of a whopping $37,000 raised that night!
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Meet Caleb!
Meet #FriendofFRAXA Caleb! 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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Jim Cantore Assists on an Absolutely Successful #GivingTuesday
With the help of our resilient supporters and the gifts of over 130 amazing donors, FRAXA Research Foundation raised $50,500 on #GivingTuesday. With a matching gift of $45,000 we were able to raise a total $95,500 to advance Fragile X research, funding two year-long research grants!
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New Partners Aim to Accelerate the Discovery and Repurposing of Medicines for Rare Neurological Diseases
First Healx secured $56M in new financing to launch a global Rare Treatment Accelerator program to tackle Fragile X syndrome and 39 other rare diseases. Now they have built a partnership with Boehringer Ingelheim worth millions. It all started with a small FRAXA grant to Healx to repurpose available drugs for Fragile X.
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Meet Jed & Kit!
Meet #FriendofFRAXA Jed & Kit! 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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