Finding a Cure for Fragile X
We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.
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When our oldest son, Taylor, was diagnosed at age 2 with Fragile X, the most common inherited cause of mental impairment and autism, brain research suddenly became deeply personal to our family. Please consider making a gift to help accelerate research to find effective treatments and ultimately a cure for Fragile X.
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FRAXA Research Foundation is funding a clinical trial of metformin for teens and adults with Fragile X syndrome. The trial is being conducted by Dr. Sean McBride at Rowan University in collaboration with colleagues at the University of Pennsylvania. Men and women ages 16-50 with Fragile X syndrome are invited to participate.
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The FRAXA Biotech Games exploded onto Cambridge Crossing with a capacity crowd. What was immediately obvious was the genuine camaraderie and mutual support of the biotech community and its many vendors to help raise awareness of and funds for research on Fragile X, the most common inherited cause of autism and intellectual disabilities.
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On July 22, 2019, the Fragile X July Jam in Derry, NH, raised over $6000 for FRAXA Research Foundation, to fund research to find effective treatments and ultimately a cure for Fragile X syndrome. Governor Chris Sununu’s policy director D.J. Bettencourt read an official proclamation calling for awareness of, and research on, Fragile X.
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Newburyport, MA (July 15, 2019) — Today, FRAXA Research Foundation announces that 20 buildings, bridges and landmarks across the United States and Canada will be illuminated teal on Monday, July 22, to celebrate International Fragile X Awareness Day. The goal of the initiative is to raise awareness of Fragile X syndrome, the most common inherited cause of autism and learning disabilities worldwide.
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Recently Laurie Bowler and her 19-year-old son Casey, who has Fragile X syndrome, visited FRAXA research grant recipient Dr. Tue Banke at his University of Washington laboratory. We hope you enjoy Laurie’s wonderful description of their adventure! FRAXA awarded $90,000 to Dr. Banke to study the Developmental Profile of Glutamatergic Synapses in Fragile X.
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Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to join a study of brain differences using non-invasive EEG.
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FRAXA Research Foundation and the Fragile X Research Foundation of Canada have awarded a grant of $100,000 over two years to Dr. Raymond Turner at the University of Calgary in Alberta, Canada. Dr. Turner and postdoctoral fellow Xiaoqin Zhan, PhD are attempting to reactivate a segment of FMRP to reverse symptoms of Fragile X in a mouse model of the disease to reduce abnormal behaviors.
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Dr. Craig Erickson and colleagues at the University of Cincinnati used eye-tracking technology to understand sociability in Fragile X syndrome. This study affirms what so many parents, caretakers, and educators suspect: people with fragile X want to be social, and it is anxiety – not lack of interest – which usually hold them back. If anxiety could be reduced, more sociability would likely follow. Dr. Erickson is a Fragile X expert and FRAXA investigator who is currently conducting a Fragile X clinical trial of an investigational new drug.
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With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.
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Important information about how best to contact your Member of Congress in support of Fragile X advocacy, including tips, recommendations, best practices and how to get contact info for your state senators and representatives.
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This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.
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I was recently contacted by my U.S. Congressman, Seth Moulton (Massachusetts 6th District) with a request to support a new bill he’s introduced with Gregg Harper (Mississippi 3rd District).
The Healthcare Extension and Accessibility for Developmentally Disabled and Underserved Population Act, or the HEADs UP Act of 2018 was introduced on the 50th anniversary of the signing of the ADA. This legislation would designate people with Intellectual and Developmental Disabilities (I/DD) as a Medically Underserved Population (MUP).
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FRAXA Research Foundation was honored to be part of the opening bell ringing ceremony at the New York Stock Exchange (NYSE) on July 5, 2018. We were there to raise awareness for Fragile X along side the National Fragile X Foundation. FRAXA President Katie Clapp and Director of Community Relations Dave Bjork attended with over 30 Fragile X family members and friends, including 4 self-advocates. This was a great opportunity to raise awareness of Fragile X on a big stage at an iconic place. The event was also carried live on television on CNBC, giving FRAXA and Fragile X broad reach around the world.
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This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.
Many medications are used to help people with Fragile X cope. But few clinical trials have been done on these drugs. Years ago FRAXA funded Dr. Craig Erickson to run a trial of aripiprazole (aka Abilify). FRAXA guest writer Hannah Miles recently caught up with Dr. Erickson to learn the results of the trial.
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Patients with Fragile X syndrome who don’t meet the cut-off for a diagnosis of autism show a decrease in impulsivity and repetitive questioning over time, when compared with patients who do, a new study shows.
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FRAXA Research Foundation has renewed Dr. Elizabeth McCullagh’s 2017 FRAXA Fellowship for a second year. Dr. McCullagh and Principal Investigator Dr. Achem Klug are investigating the “cocktail party effect” in Fragile X mice. There is a specific circuit which allows us to discriminate between competing sound sources, helping us focus on a sound source of interest such as with a conversation partner. If clear differences are found in this circuit, they could be used as potential biomarkers for Fragile X clinical trials.
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Like other boys with Fragile X syndrome, Bash is hoping for an effective treatment and ultimately a cure. I am hoping to assist in this research by running my first marathon on April 8, 2018. Please sponsor me to fund research through the FRAXA Research Foundation.
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While there are over 8,000 rare diseases affecting an estimated 350 million people worldwide, only around 200 of these conditions have effective treatments. Due to the high cost of developing new drugs, rare diseases have historically been less attractive to pharmaceutical companies. Drug repurposing systematically leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, but with greater success rates and a potentially more immediate impact on health care.
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The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating Fragile X.
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According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X
Read moreToday the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop kicks off in Quebec, Canada. For the next six days, scientists from around the world will gather at this workshop to focus on recent breakthroughs in our understanding of Fragile X, autism spectrum disorders (ASD), and related neurodevelopmental disorders. This biennial meeting has been instrumental to the discovery of many disease-causing genes and the development of therapeutic strategies for these disorders.
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Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.
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