News & Updates • Fragile X Research - FRAXA Research Foundation

Non-Invasive Imaging as a Biomarker for Future Fragile X Clinical Trials

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Frick, Andreas • Grokoski, Kamila Castro • Neurocentre Magendie, France September 6, 2018September 6, 2018MRI

FRAXA Research Foundation has renewed Kamilla Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamilla Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.

$16,560 Raised for Fragile X Research at Callum Cup III

Andrew Murphy Events Recap September 5, 2018September 5, 2018

July was a great month for soccer. First, France won the World Cup, then 7 days later Millburn Football Club hosted the 3rd annual Callum Cup. Proceeds from the match were for raising funds for Fragile X research. This intra-club charity match has become the grande finale of the Millburn FC calendar, played in honor of Callum Murphy, the son of club goalkeeper, Andrew Murphy.

HEADs UP Act Could Increase Access to Health Care

Dave Bjork Advocacy August 24, 2018autism, Pierce Family Fragile X Foundation

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).

Mega Green Tea Extract to Treat Fragile X?

Hannah Maria Miles de la Torre, Rafael • Dierssen, Mara • Research Updates August 22, 2018Alzheimer's, estrogen

Green tea is thought to have many benefits, particularly in cognitive function. In 2012-14, FRAXA Research Foundation funded a clinical trial to assess the effects of EGCG (green tea extract) on cognitive function in adults with FXS. Drs. Rafael de la Torre and Mara Dierssen Sotos, principal researchers in Barcelona, Spain, reported many positive results. After the extract was no longer administered, effects remained stable. Memory, attention, and mental flexibility improvements were still observable at least 3 months after treatment ended.

How Promising is CRISPR for Fragile X?

Dave Bjork Research Updates • Todd, Peter August 14, 2018August 15, 2018CRISPR, FXTAS, mGluR, PSD-95

Dave Bjork, Director of Community Relations, recently sat down with Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School. Dr. Todd was recently awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really be a cure for Fragile X.

Niagara Falls went Teal for Fragile X Awareness

FRAXA Research Foundation Community • Events Recap August 13, 2018August 13, 2018

On Sunday, July 22 at 10:00 pm, Niagara Falls was lit up teal to honor National Fragile X Awareness Day! We are extremely grateful to the Niagara Falls Illumination Board for making this happen. The teal lighting created a spectacular experience for all the spectators on both sides of the falls.

FRAXA co-founders Katie Clapp and Michael Tranfaglia made the drive from Massachusetts, and our web developer, Eric Welin, trekked to the falls with his entire family. Our afternoon meet up at Goat Island included Fragile X families from Canada, Illinois, Kentucky, New York and South Africa! Several happy Fragile X self-advocates could be seen running around with their siblings, while everyone enjoyed the Fragile X family reunion. It was great to see all of the different Fragile X shirts our friends wore.

Retinoic Acid Signaling Blocked by Fragile X Mutation

FRAXA Research Foundation FRAXA Updates August 10, 2018August 10, 2018CRISPR

A 2013-2014 FRAXA Research Grant, Synaptic Characterization of Human Fragile X Neurons, has shown that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling.

Principal Investigator Marius Wernig, PhD and FRAXA Postdoctoral Fellow Samuele Marro, PhD at Stanford University used stem cells from human adults, instead of mouse cells, for this study. They found promising results with retinoic acid which is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

Dr. Marro provided us with the following summary of the published results.

Survey: Parent Decision Making to Inform Fragile X Syndrome Clinical Drug Trials

FRAXA Research Foundation Recruiting August 8, 2018August 8, 2018

New survey study from the National Institutes of Health (NIH) to investigate the decision-making process among parents considering enrolling their child with Fragile X syndrome in a clinical drug trial. Fill out a questionnaire which will ask you about factors related to deciding to enroll your child in a clinical drug trial, your views on clinical trials more generally, and potential barriers to participating in clinical trials. It will take you about 20 minutes.

Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens

FRAXA Research Foundation Community • Todd, Peter August 7, 2018August 7, 2018CRISPR

Theirs was an effort by a small group of thoughtful, committed members of the Fragile X Association of Michigan (FXAM) to be sure. The entire project took months! But it was hard work well worth the effort. After writing and revising (and revising), FXAM was awarded a $35,000 grant which the Michigan Fragile X group will now direct to Dr. Todd’s ongoing Fragile X research involving CRISPR!

Ringing the Bell at the New York Stock Exchange for Fragile X Awareness

Dave Bjork Events Recap • FRAXA Updates July 16, 2018July 20, 2018autism

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.

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 16, 2018Alzheimer's, 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.

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's, 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. Coming Full Circle – Kathy May Returns back to FRAXAon 15 November 2017Coming Full Circle – Kathy May Returns back to FRAXAon 15 November 2017Andy Tranfaglia: an Adult with Fragile X Syndromeon 13 June 2013Andy Tranfaglia: an Adult with Fragile X Syndromeon 13 June 2013Fragile X Awareness Day Origins and a Tributeon 22 July 2017Fragile X Awareness Day Origins and a Tributeon 22 July 2017Read more

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