Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

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.

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Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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Small Molecule Cocktail Can Reactivate the Fragile X Gene in Cells: Progress Report

Small Molecule Cocktail Can Reactivate the Fragile X Gene in Cells: Progress Report

With a $180,000 grant from FRAXA Research Foundation and the Pierce Family Fragile X Foundation, Dr. Jeannie Lee and her team at Harvard University and Massachusetts General Hospital have run a series of studies aimed at reactivating the gene, FMR1, which is silenced in Fragile X syndrome. Dr. Lee and colleagues have found a method using combinations of specific drugs which can spur the FMR1 gene to produce its normal protein product.

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Now Recruiting: Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

Now Recruiting: Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

FRAXA Research Foundation has funded a clinical trial of an investigational new drug, led by Dr. Elizabeth Berry-Kravis at the Rush Fragile X Clinic in Chicago. This trial will treat 30 adult males with Fragile X syndrome with a PDE4D allosteric inhibitor from Tetra Discovery Partners using in a crossover design, so that everyone gets active drug for part of the time and placebo for part of the time.

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

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

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 (2-7 years) with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS.

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Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.

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Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA Research Foundation has awarded a $90,000 grant to Principal Investigator Dr. Sean McBride and Postdoctoral Fellow Dr. Karen Joyce, at Rowan University, to screen all 2,320 FDA-approved drugs on both mouse and fly models of Fragile X syndrome. Those drugs which show promise will be tested in more detail for potential to treat Fragile X in humans.

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Kathan Pierce Honored as a New England Patriots Difference Maker

Kathan Pierce Honored as a New England Patriots Difference Maker

FRAXA is proud to announce that one of our board members, Kathan Pierce, was recognized by the NFL’s New England Patriots and team owner Robert Kraft for her tireless volunteerism. We are grateful for Kathan’s contributions to FRAXA, and to the Patriots, who announced they are also awarding a $5,000 grant to FRAXA to support Fragile X research.

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UMASS CANDI New Techniques to Measure FMR1 mRNA and FMRP

UMASS CANDI New Techniques to Measure FMR1 mRNA and FMRP

CANDI has set a date to wrap up this study by March 2019. Ideally they would like to enroll 5 more individuals with Fragile X syndrome between now and then but if they have at least three more folks who would like to participate, that would be terrific! The upper age limit has been increased from 12 to 22 and they are particularly interested in enrolling girls with Fragile X if possible.

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Novel Modulators of Potassium Channels to Treat Fragile X

Novel Modulators of Potassium Channels to Treat Fragile X

With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.

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Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease

Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease

Tetra Discovery Partners has signed a multi-part deal that could bring it up to $160 million, plus royalties, from Shionogi & Co, Ltd, a Japanese major research-driven pharmaceutical company. Tetra currently is conducting an investigational Phase 2 study of BPN14770 in adults with Fragile X Syndrome, an indication for which BPN14770 has received Orphan Drug Designation from the US Food and Drug Administration. This clinical trial was made possible by early work with the FRAXA-DVI and over $200,000 from FRAXA.

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Hope for the Holidays Gala Helps Advance Fragile X Research

Hope for the Holidays Gala Helps Advance Fragile X Research

On December 8, 2018, a sold-out crowd of 250 people gathered for the 3rd Annual Hope for the Holidays Gala at the Café Escadrille in Burlington, MA, to raise funds for Fragile X research. For the third year in a row, the Pierces presented a check for $100,000 to FRAXA Research Foundation. We are truly grateful for this ongoing, generous support of our mission to find effective treatments and ultimately a cure for Fragile X.

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Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

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Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X) is a newly initiated multi-national, randomized, double-blind, placebo-controlled, 14-week trial, sponsored by Zynerba Pharmaceuticals. It is now enrolling patients ages 3 through 17 years with full mutation Fragile X syndrome, to evaluate the efficacy and safety of an investigational CBD gel (ZYN002).

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Meet Emily!

Meet Emily!

Meet #FriendofFRAXA Emily! If 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.

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Lucas Turned 21, Yet Not Much has Changed – Clark Family Campaign

Lucas Turned 21, Yet Not Much has Changed – Clark Family Campaign

Lucas turned 21 this year, a fun milestone for most young adults, but not as eventful for someone with Fragile X syndrome. Lucas still prefers isolation in his room, fast-forwarding and rewinding to his favorite spots in his DVD collection, doing the same for videos on the internet, and his favorite internet pastime: shopping for die-cast toy cars and trucks.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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Research Points to Drugs which Inhibit PDE to Treat Fragile X

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.

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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

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Fragile X Farm Life is Taylor’s World – Stevenson Family Campaign

Fragile X Farm Life is Taylor’s World – Stevenson Family Campaign

Our world was turned upside down when Taylor was diagnosed at age 2 with Fragile X syndrome. We are thrilled that Taylor is busy, safe, happy and well cared for, living the simple farm life, though 22 years ago this was not the path we had envisioned for him. As a true apple lover, we’ve heard Taylor will pick an apple and give it a kiss before placing it in a basket. He’s also known as “the best chicken man there” as he is one of the few residents not afraid to go boldly into the coop and take the eggs from the chickens.

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