News & Updates • Fragile X Research - FRAXA Research Foundation

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA Research Foundation 2018 Grants • Current Research Grants • Disease Mechanisms • Ingolia, Nicholas • Kim, J. Wren • University of California at Berkeley July 12, 2018July 12, 2018

FRAXA’s first-ever grant to researchers at the University of California at Berkeley goes to Dr. Nicholas Ingolia and Dr. J. Wren Kim to analyze the proteomics of Fragile X neurons using a newly developed tool which can distinguish the profiles of neurons that are actively responding to signals.

Press Release: Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center July 10, 2018July 10, 2018Alzheimer, autism, BPN14770, FDA, PDE4, sleep, Tetra Discovery Partners

Tetra Discovery Partners today announced the initiation of a Phase 2 study of BPN14770 as a potential treatment for Fragile X Syndrome, the most common genetic form of autism. A selective small molecule inhibitor of the phosphodiesterase type-4D (PDE4D) subtype, 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. BPN14770 has also received Orphan Drug Designation from the U.S. Food and Drug Agency for the treatment of Fragile X Syndrome.

Aripiprazole as a Treatment for Fragile X Syndrome

Hannah Maria Miles Clinical Trials • Erickson, Craig • Research Grant with Results • Research Updates June 28, 2018June 29, 2018Abilify, aripiprazole, autism

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.

Study Examines Behavioral Traits of Fragile X Patients Without Autism

Fragile X News Today Research Updates June 21, 2018June 20, 2018autism

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.

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018June 20, 2018EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

22nd Patrick’s PALS Basketball Tournament Raises $125,000 for Fragile X Research!

James Vershbow Events Recap June 13, 2018June 15, 2018Patrick's PALS

The Patrick’s PALS 22nd Annual 3-on-3 Basketball Tournament benefiting FRAXA Research Foundation took place on Saturday, June 2, 2018, at the Buckingham Browne & Nichols School (BB&N) in Cambridge. 36 teams signed up and were squeezed into the 32-team, double-elimination format raising another $125,000 for Fragile X research!

Auditory Dysfunction in Fragile X Syndrome, Role for the Sound Localization Pathway

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Klug, Achim • McCullagh, Elizabeth • University of Colorado June 5, 2018June 5, 2018autism, hypersensitivity, neural network, sound

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.

FRAXA Biotech Games™ – Broadening the Base for Fragile X Research

Dave Bjork Events May 23, 2018June 14, 2018

We are proud to announce that the First Annual FRAXA Biotech Games™ are coming to Boston in September 2018. This event is a “friendly” competition between leading biotech companies in greater Boston in a series of back yard lawn games including Cornhole, KanJam, Bucketball and Ladder golf. The event will take place on the campus of Massachusetts Institute of Technology (MIT) and funds raised will support a FRAXA Fragile X research grant to the lab of Dr. Mark Bear at the MIT Picower Institute.

Drew Zachary Wieber, 8, of Taylor Mill, KY

FRAXA Research Foundation Friend of FRAXA May 22, 2018June 7, 2018

Drew’s interests: iPad, “reading” books, parks, puzzles, school, car rides and loves hearing shows in a British accent (Peppa Pig, Small Potatoes) or in a Darth Vader type voice!

Three-Dimensional Model for Identifying Fragile X Treatments

FRAXA Research Foundation 2018 Grants • Current Research Grants • Emory University • Jin, Peng • Kang, Yunhee • Resources • Treatment Targets • Wen, Zhexing May 16, 2018June 5, 2018iPS, neural stem cells, organoid

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Bear, Mark • Current Research Grants • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Treatment Targets May 9, 2018May 9, 2018AFQ056, arbaclofen, drug tolerance, GABA, GSK3, lithium, mGluR5, Novartis, Roche

With a $90,000 grant from FRAXA Research Foundation, Dr. Patrick McCamphill and Dr. Mark Bear at Massachusetts Institute of Technology (MIT) will further investigate drug tolerance and ways to overcome it.

Lysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X

FRAXA Research Foundation Moine, Herve • Research Updates April 26, 2018April 26, 2018DgkK

A research project funded by FRAXA has led to new fragile x gene therapy initiative, this time in France. Lysogene, a French biopharmaceutical company working to develop gene therapy treatments for brain disorders, is partnering with FRAXA Investigator Dr. Herve Moine to tackle Fragile X syndrome.

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Research Foundation Clinical Trials • Erickson, Craig • Events Recap • Wilkinson, Carol April 9, 2018July 10, 2018AstraZeneca, AZD7325, EEG, Pierce Family Fragile X Foundation

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference, Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

Fragile X Clinical Trial of New PDE4 Inhibitor from Tetra funded by FRAXA

FRAXA Research Foundation 2018 Grants • Berry-Kravis, Elizabeth • Clinical • Clinical Trials • Current Research Grants • Rush University Medical Center April 5, 2018April 12, 2018Alzheimer, BPN14770, cyclic AMP, FDA, FRAXA-DVI, PDE4, Pierce Family Fragile X Foundation, Tetra Discovery Partners

With a $200,043 grant from FRAXA Research Foundation in April 2018, Dr. Elizabeth Berry-Kravis will conduct a Phase 2 clinical trial of a new PDE4 inhibitor from Tetra Discovery Partners in adults with Fragile X syndrome.

Zack Miraglia, 15, of Danvers, MA

FRAXA Research Foundation Friend of FRAXA April 2, 2018May 22, 2018

#FriendofFRAXAInterestsSwimming, watching/collecting movies, reading books, playing mini golf, playing Wii, and being with his family. ChallengesThe dentist, thunder and other loud noises. Become a #FriendofFRAXAIf you would like to nominate someone as a #FriendofFRAXA, simply email a photo accompanied with age, location, and a few of his or hers interests and challenges to brianne@fraxa.org. We welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike. Andy Tranfaglia: an Adult with Fragile X Syndromeon 13 June 2013Andy Tranfaglia: an Adult with Fragile X Syndromeon 13 June 2013Darren’s Smileon 07 January 2013Darren’s Smileon 07 January 2013Zack Miraglia, 15, of Danvers, MAon 02 April 2018Zack Miraglia, 15, of Danvers, MAon 02 April 2018Read more

Takeaways from Fragile X Advocacy Day

Dave Bjork Community March 29, 2018June 18, 2018AstraZeneca, AZD7325, cancer, CRISPR, FDA, Pierce Family Fragile X Foundation

In the first week of March I attended my first Fragile X Advocacy Day to meet with many of the Massachusetts delegation to Congress. While this was my first time advocating for Fragile X research, I’ve been a longtime lung cancer research advocate and have met with many of the same representatives in the past. It was a pleasure to meet with many of the families as my participation in Advocacy Day was in the spirit of “we are all in this together”.

Reintroducing FMRP to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Current Research Grants • Genetic Rescue • Turner, Raymond • University of Calgary, Canada • Zhan, Xiaoqin March 29, 2018March 30, 2018autism, Fragile X Research Foundation of Canada, potassium channels, TAT (Trans-Activator of Transcription)

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.

FRAXA Research Grants Drive Big Investments in Fragile X

Dave Bjork Bhattacharyya, Anita • Canal, Clinton E. • Kaczmarek, Leonard • Research Updates • Zhao, Xinyu March 28, 2018July 10, 2018Autifony Therapeutics, FRAXA-DVI, Fulcrum Therapeutics, serotonin, sound

Most people know that FRAXA supports academic research at many institutions such as Harvard University, University of Pennsylvania, Massachusetts Institute of Technology, and Yale University. However, FRAXA is also working with more than 30 pharmaceutical companies around the world. Mike spends a lot of his time advising and collaborating with industry partners.

Now Recruiting: Clinical Study of EEG for Young Boys at Boston Children’s Hospital

FRAXA Research Foundation Clinical Trials • Recruiting • Research Updates March 27, 2018July 10, 2018autism, EEG, Pierce Family Fragile X Foundation, sound

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at the Labs of Cognitive Neuroscience at Boston Children’s Hospital are recruiting young boys with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS. If we can determine what distinguishes one brain from another, and if a drug works with a particular neural marker or set of neural markers, this would permit matching drugs based on objective biological markers, a personalized medicine, rather than defaulting to the current method of trial and error.

Neural Markers of Cognitive, Language and Behavioral Deficits in Children with Fragile X

FRAXA Research Foundation 2017 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Harvard University • Nelson, Charles A. • Recruiting • Wilkinson, Carol March 16, 2018July 10, 2018autism, EEG, Pierce Family Fragile X Foundation

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston’s Children’s Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

Can CRISPR Cure Fragile X Syndrome?

Katie Clapp Genetic Rescue • Lee, Jeannie • Research Updates • Todd, Peter February 28, 2018June 4, 2018CRISPR, Rett syndrome

CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.

Newly Diagnosed with Fragile X – What Comes Next?

Theodore Coutilish Friend of FRAXA February 22, 2018June 14, 2018

Jessica Haugen and Jeff Eliason received the phone call every parent dreads in October 2012. Their son’s pediatrician told them their son, Larry, then 1, had Fragile X syndrome (FXS) and “there’s nothing you can do about it.” The couple reacted similarly to how other newly diagnosed parents receiving these results. Denial. Discouragement. Depression.

Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Current Research Grants • Drug Repurposing • Healx February 8, 2018July 10, 2018drug repurposing, FDA, FRAXA-DVI, Healx

FRAXA Research Foundation initially partnered with Healx in 2016 to identify existing drugs with potential to treat Fragile X syndrome, using machine learning algorithms and computational biology. The study produced results, and now FRAXA and Healx have launched a new round of studies to evaluate combinations of compounds, including both drugs and natural products.

Impact of the Fragile X Community

Dave Bjork Erickson, Craig • Events Recap • FRAXA Updates • Huber, Kimberly • Richter, Joel • Warren, Stephen February 2, 2018July 9, 2018cancer, hyperexcitability

At FRAXA Research Foundation, we are truly grateful for our Fragile X community and thousands of donors. We couldn’t keep moving the ball forward in research without your support. Each year FRAXA invests over $1 million in Fragile X research thanks to your support. Because we supported these three researchers, we were able to secure another $35 million in research aimed at identifying clinical trial outcome measures that will lead to human trials of promising treatments for those affected by Fragile X.

FX-LEARN – Clinical Trial for Language Learning of AFQ056 in Children

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center February 1, 2018April 30, 2018AFQ056, Novartis

The purpose of this NeuroNEXT study is to find out if the drug AFQ056, made by the pharmaceutical company Novartis, is safe and has beneficial effects on language learning in children who have Fragile X syndrome (FXS). The study also aims to find out if a structured language intervention can help children with Fragile X syndrome communicate better.

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