Darren’s Smile

Darren’s Smile – This is a very difficult post to write because it is about a son, Darren, who has passed away. Darren’s dad has written a memoir – a beautiful tribute to his son. Darren had Fragile X syndrome. He lived a rich life and was very much loved. Sadly he died because of a choking incident at the group home where he lived. There’s not much written about the risk of choking for people who have Fragile X, but I do wonder if it is a particular risk that we should remember. Read Darren’s Smile at http://fraxa.org/pdf/Darren.pdf

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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 will

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Fragile X Research Grants and Fellowships Funded 2011

4/7/2011: FRAXA Awarded $1,054,286 in Fragile X Research Each year FRAXA holds a competition to find – and fund – the most promising new projects aimed at discovering targeted, effective treatments – and ultimately a cure – for Fragile X and related autism spectrum disorders. Each team has a page on this website with details. Our competitive grant-making process ensures that the best and most innovative research gets supported, that new scientists join the Fragile X field, and most important – that we get closer to a cure. FRAXA aims to advance the kind of translational research that is most likely to lead to improved treatment. FRAXA Postdoctoral Fellowships are for $45,000/yr for 2 years. FRAXA Project Grants vary in amount; amounts are per year and most projects are renewable based on progress) New Project Grants $363,088 New Postdoctoral Fellowships: $315,000 Renewed Postdoctoral Fellowships: $376,198 Total: $1,054,286 Additional awards were

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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 its

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FRAXA 2010 Research Awards Funded

4/1/2010 Program Grants and new Postdoctoral Fellowships total over $1.5 million this year. We are very pleased to announce FRAXA 2010 awards. Projects can be viewed at the Research Reports section of this website. These scientists have demonstrated outstanding potential of their FRAXA projects in detailed applications. We aim to help them work toward new treatments for Fragile X. Their projects are at the cutting edge of biomedical technology, and we believe that their work will make a real difference to everyone affected by Fragile X. FRAXA is collaborating with more than a dozen pharmaceutical companies to translate this research into practical treatments for Fragile X. In May, 100 FRAXA-supported researchers will join many of these pharmaceutical industry scientists at the FRAXA Investigators Meeting. There they will put their heads together for our common goal: finding effective treatments and a cure for Fragile X. We extend our most sincere gratitude

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Roche begins New Phase 2 Fragile X Clinical Trial in the US

Swiss pharmaceutical giant Hoffmann-LaRoche (“Roche”) has begun US trials of their lead mGluR5 antagonist, RO4917523, for Fragile X. Five US sites – Atlanta, Chicago, Nashville, Indianapolis, and Davis, CA – are currently recruiting participants; details here. Longtime FRAXA members will recall that we’ve been talking about the promise of mGluR5 drugs to treat Fragile X for years. Ever since FRAXA Postdoctoral Fellow Dr. Kim Huber made the original finding in Mark Bear’s lab at Brown University in 2000, FRAXA has been working nonstop to organize and fund the pivotal preclinical research which has validated these drugs as potential treatments for Fragile X. Starting in 2001, FRAXA organized a concerted effort in university labs around the world to confirm Mark Bear’s mGluR Theory of Fragile X and to demonstrate to pharmaceutical companies that mGluR5 antagonists have specific therapeutic effects for Fragile X. This strategy has exceeded expectations with trials currently in

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Bloomberg News: Roche Eureka Moment on Disorder

Bloomberg News: Roche Eureka Moment on Disorder

Researcher Luca Santarelli wasn’t sure what do to with an experimental medicine developed in the labs of his employer, Roche, until a 2007 meeting with a concerned father led to a “Eureka moment.” Mike Tranfaglia, whose son Andy has Fragile X, met Santarelli to present new research… By Dermot Doherty http://www.bloomberg.com/apps/news?pid=newsarchive&sid=a0S62zPmBtN0

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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 male

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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: *

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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,

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Phase II Trial of Fragile X Treatment in Europe: AFQ056

This small Phase II trial sponsored by Novartis will test a new compound which is an mGluR5 antagonist. A new trial has been posted today at ClinicalTrials.gov: Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients. AFQ056 is a new compound developed by Novartis; it’s their lead mGluR5 antagonist, which means it reduces mGluR5 activity in the brain. This, as many FRAXA-supported research studies have shown over the past few years – is known to be overactive in Fragile X. This trial, conducted in Italy, France, and Switzerland, will evaluate the safety, tolerability and efficacy of multiple doses of AFQ056 in patients with Fragile X Syndrome. The dose range will be 50 to 150 mg twice daily. The primary read-out of efficacy is reduction in Aberrant-Behavior Checklist score, a standard and widely-accepted measure of mental health. Enrollment is by invitation only. AFQ056 is also being studied as a potential

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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

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007)   Clinical development of mGluR5 Antagonists to Treat Fragile X Syndrome and Autism Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for fragile X. Unfortunately Seaside has since discontinued development of STX107.

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