Finding a Cure for Fragile X
Tetra Therapeutics is launching large scale clinical trials of their phosphodiesterase (PDE) inhibitor for males ages 12-45 with Fragile X syndrome. FRAXA Research Foundation’s basic and translational research pointed the way to phosphodiesterase inhibitors to treat Fragile X many years ago.
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Research aimed at finding Fragile X syndrome treatments is exploding. Why are so many pharmaceutical and biotech companies investing in this orphan indication? FRAXA chief scientific officer Dr. Michael Tranfaglia explains the many reasons Fragile X is such a hot topic.
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Brothers Pete and Dave Hall hosted their 33rd Annual Charity Golf Tournament on Memorial Day weekend. For the fifteenth consecutive year the money raised from this long-standing event has gone to FRAXA. This year’s total of over $28,000 pushes the 15 year total to over $262,000!
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Healx is recruiting adolescent and adult (13-40 years old) males with Fragile X syndrome (FXS) for its IMPACT-FXS study in the US. This Phase 2, placebo controlled study will evaluate the safety, tolerability and efficacy of two potential medications, HLX-0201 (sulindac, at 2 different doses) and HLX-0206 (gaboxadol). The aim is to confirm whether these drug candidates are safe and work as intended to reduce symptoms of FXS.
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The Fragile X field needs biomarkers to accurately measure the effects of potential treatments in both Fragile X mice and in humans. Dr. Ozaita and his team have found molecular features in the brain that can serve as an objective signature for the syndrome. They will use this tool to test cannabidiol and two other drugs in mice.
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Could microRNAs be a new path to treatment of Fragile X syndrome? MicroRNAs are disrupted in Fragile X, and so this team will work to understand what is going wrong and explore ways to correct it with drugs which directly target microRNAs.
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Jason, a Built employee, worked with his team to host a BBQ at one of their construction sites to benefit FRAXA Research Foundation. Built, one of Australia’s largest private construction groups, has a reputation for being client focused. Their personal touch extends not only to their clients but to their employees, too, as Jason and Belinda D’Amico experienced personally after their boys, Jaxson and Alex, were diagnosed with Fragile X syndrome.
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Did you know that depression is more common in those with autism and/or Fragile X? Even more disturbing is the discovery that current treatments for depression do not work in Fragile X mice. With this grant, the team will work to develop a rapid screening tool to identify FDA-approved drugs which can treat depression in people with Fragile X syndrome.
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The efforts of the European Fragile X Network (EFXN) have led to the renaming of the FMR1 gene to “Fragile X Messenger Ribonucleoprotein 1” gene and the Fragile X protein, FMRP, to “Fragile X Messenger Ribonucleoprotein.” Families around the globe are celebrating the news as a significant step forward for acceptance and the removal of a term that evokes many negative feelings.
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Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.
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“We are often asked how we can do this, live with the challenges of Fragile X, day in and day out” Lou shared, “It’s just what we do. We keep going forward. FRAXA gives life and purpose to our community. I look forward to Charity Week being an annual VLM event and supporting the work FRAXA does.”
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Dr. Mike Tranfaglia explains how FRAXA prioritizes research and the importance of looking at research from multiple angles. “It’s not either-or. It’s not we have a definitive treatment or we have a new drug treatment or we have a repurposing treatment. We can have all of those things, mixed or matched, in a personalized medicine kind of way and I think that’s what we’re headed for.”
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Behavioral problems such as hyperactivity and aggression are generally more frequent in younger children with Fragile X syndrome, becoming less common as they grow through adolescence and journey toward adulthood, researchers report.
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The EHL Fragile X Foundation hosts an annual Touch-A-Truck in Cape Coral, Florida. This free hands-on family event provides a unique opportunity for children and adults alike to ask questions and explore vehicles of all types including Cape Coral Rescue Fire Truck, Lee County Emergency Medical Ambulance, Cape Coral Police BMW Motorcycles, and the Florida Forestry Swamp Buggy, and more awesome vehicles – all in one place.
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This evening was the first of what will be an annual event for Debra and Kevin, whose grandson Jackson has Fragile X syndrome. Their son, Edward, was on hand sharing with guests how Fragile X has impacted the life of his son and the challenges he and his wife, Avalon, face each day.
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Dr. Mike Tranfaglia shares what FRAXA is excited about as we work through reviewing all of the submitted Fragile X research grant applications. We find it especially exciting that so many new clinical trials are starting right now, as our major emphasis is getting the drugs and other treatment strategies that we have tested in the Fragile X mouse model to patients in clinical trials.
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The Fragile X and Autism-Related Disorders Gordon Research Conference is a biannual event that provides an international forum for the presentation and discussion of frontier research in these conditions. Dr. Mike Tranfaglia explains why this is the premier conference for researchers and the scientific community.
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This study from the Wilkinson Lab at Boston Children’s Hospital is investigating how differences in brain activity affect learning, language and behavior in children with Fragile X syndrome, Down syndrome, and Autism Spectrum Disorder. One of the goals is to find brain markers that predict cognitive, language, and behavioral difficulties in these groups. Another goal is to better understand the differences in brain activity between young children with and without Fragile X and Down Syndrome, and whether these differences are similar in children with Autism Spectrum Disorder.
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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 participate in a study of brain differences using non-invasive EEG.
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The hardest part about making the mittens is finding wool sweaters. It takes Carol 2 – 2 ½ hours to complete a pair of wool mittens, which have a soft fleece lining. Mitten sales have done very well over the years, enabling Carol to support Fragile X research.
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Meet #FriendofFRAXA Archie! 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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With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.
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People often say they would do anything for their children. What if that “anything” was to climb a mountain? How about three in a twenty-four hour time period? That’s exactly what Michael Leonard did in honor of his son, Cole, who lives with Fragile X syndrome.
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Dr. Peter Kind, Director of the Patrick Wild Centre and Professor of Developmental Neuroscience at the University of Edinburgh, and Dr. Nahum Sonenberg, James McGill professor of biochemistry at McGill University, share their optimism about the next 10 years of Fragile X research. They discuss where they think the next big discoveries will emerge.
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With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.
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