Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research

Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research
4 Countries - 10 Teams - $1 Million From finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure. Improving Clinical Trials Many parents of children with Fragile X know well the struggles of getting their children to sleep through the night. Mice and fruit flies engineered to mimic Fragile X Syndrome also have disrupted sleep. Drs. Westmark and Smith will test potential therapeutics in mice using sleep as an outcome measure and investigate whether sleep could be used as an outcome measure for future clinical trials. The search is on for a simple blood test to measure how well a treatment works for an individual with Fragile X. Dr. Frank Kooy's team investigates. Testing Treatment Targets One of the goals of FRAXA's research program has been to find biological pathways affected inRead more

Andy Tranfaglia: an Adult with Fragile X Syndrome

Andy Tranfaglia: an Adult with Fragile X Syndrome

June 2017: Andy is 28 years old now. He lives at home with us, his mom and dad, two cats, and a dog. He can understand most of what people say, but is usually too anxious to let you know. He will cover his face whenever someone walks into the room – even his mom or dad! Andy attends a supported farm program most days, and the minute he is out of the house, we rush off to work at FRAXA. We don’t know what the future holds, but we hope for great things for Andy. We try to teach him basic skills to increase his independence in the future, but realistically, we don’t leave him alone for even 15 minutes at this point. What do you call a babysitter when you need care for a 27-year-old? There is an image of Andy I can never forget, at 3 years old, screaming,

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Spreading Sunshine

There was a time when no one ever heard about Fragile X. The days seemed darker and colder back then. When a woman named Doris Buffett decided to embrace us, her warmth spread over us like a blanket, and the impact of her presence was immediate. As mothers and fathers of Fragile X children, we felt encouraged by the light Doris cast our way. We felt honored that the Sunshine Lady and her Foundation directors chose to invest in our children and our future. We were reinvigorated because of her generous financial support and her profound vision. Her tremendous energy turned contagious, fueling us to do more. Doris called FRAXA “The Gold Standard” in grass roots charities and donated more than $3 million to FRAXA in challenge grants. With our deepest gratitude, we are once again thanking Doris Buffett’s Sunshine Lady Foundation for her latest gift, a donation which willRead more

Clinical Trial of Minocycline Promising

Clinical Trial of Minocycline Promising
Results of the first clinical trial of minocycline in Fragile X patients were published today, and they suggest that this medication can improve challenging behaviors commonly seen in Fragile X. Twenty males and females with Fragile X, ages 13-32, participated in this open-label add-on trial at the Fragile X clinic in Toronto, Canada. Dr. Carlo Paribello, himself father of two boys with Fragile X, led the trial which was funded by FRAXA. Patients received either 100 mg or 200 mg of minocycline daily, and their behaviors were evaluated prior to treatment and again 8 weeks after daily minocycline. Behavioral scores showed striking improvement and the drug was generally well tolerated. The most significant side effect noted was, in blood tests, an asymptomatic seroconversion to a positive ANA in two people. This is a nonspecific marker of immunoinflammatory connective tissue diseases, so physicians who prescribe minocycline should be aware of itsRead more

Results of First Fenobam Trial in Adults with Fragile X Published

Results of first trial of fenobam in adults with Fragile X Published in Major Journal We are pleased to announce the publication of positive results of a Phase IIa clinical trial of fenobam in Fragile X. Fenobam belongs to a class of compounds known as mGluR5 antagonists. Neuropharm, a specialty pharmaceutical company based in the U.K., received Orphan Drug Designation in the US in 2006 for fenobam in the treatment of Fragile X, after acquiring rights to relevant data on the compound from FRAXA. This trial was conducted in the US by Drs. Randi Hagerman of the UC Davis MIND Institute and Elizabeth Berry-Kravis of the RUSH University Medical Center, and initial results were first announced last summer. Their article in the Journal of Medical Genetics can be accessed free at: http://jmg.bmj.com/cgi/rapidpdf/jmg.2008.063701v1 Highlights of the study: 1. This was a single dose open label study of fenobam in 6 maleRead more

3 Researchers Honored at FRAXA Investigators Meeting

Three researchers honored at FRAXA 2008 Investigators Meeting Over 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation's Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: "to share, collaborate and publish," in the words of FRAXA's Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children. At the opening reception, FRAXA honored three investigators for taking extraordinary steps to advance research: *Read more

Researchers Propose Minocycline to Treat Fragile X

Study leader Iryna Ethell awarded FRAXA Breakthrough Award for 2008 A University of California Riverside team of scientists has found that an available drug called minocycline, used widely to treat acne and skin infections, might also be used to treat Fragile X. The study’s findings have already led to the approval of a FRAXA-funded clinical trial in Toronto, Canada, that will test minocycline in patients with Fragile X. Neurons in the brain communicate with each other at specialized contact sites called synapses, with many of these synapses occurring on small mushroom-shaped structures called dendritic spines. During early development dendritic spines have immature finger-like shapes. But learning stabilizes the synapses and dendritic spines take on a mature mushroom shape, which make them more efficient. The brains of patients with Fragile X syndrome have an overabundance of immature dendritic spines. In their report, the researchers, led by Iryna Ethell and Douglas Ethell,Read more

Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!

Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!
FRAXA Families and Friends Tripled the Goal! In the Spring of 2007, Doris Buffett, president of the Sunshine Lady Foundation, challenged FRAXA to raise $500,000 in new funds by November 1 which she’d match. On August 28th, FRAXA met the challenge! Doris told us to keep going. Until November 1, the sky would be the limit. The grand total of new donations received was $1,424,562, with an additional $98,755 in pledges payable by March 1st, for a total of $1,523,317! Together with Ms. Buffett’s initial $500,000 gift, FRAXA Doris Buffettreceived over $3.5 million in new money — all for research aimed at curing or treating Fragile X. This means new clinical trials, new research, new determination to reach for a cure. Thanks so very much to all of you who helped make this happen. More than 2600 people donated toward the Challenge – it is a true grass-roots community success.Read more