FRAXA Research Foundation, Author at Fragile X Research

Targeting Mitochondria in Human Fragile X Syndrome Neurons

FRAXA Research Foundation 2019 Grants • Bhattacharyya, Anita • Current Research Grants • Disease Mechanisms • Shen, Minjie • Treatment Targets • University of Wisconsin • Zhao, Xinyu August 6, 2019August 6, 2019

FRAXA Research Foundation has awarded a $90,000 research grant to principal investigator Dr. Xinyu Zhao and postdoctoral fellow Dr. Minjie Shen at the University of Wisconsin. They are investigating whether drugs which boost mitochondria — which provide the energy for cells — could treat Fragile X syndrome. Dr. Zhao explains in this video. With this award, FRAXA has funded almost $1 Million in Fragile X research at the University of Wisconsin!

NH Fragile X Awareness Day Proclaimed at July Jam Fundraiser

FRAXA Research Foundation Advocacy • Events Recap July 26, 2019July 26, 2019autism

On July 22, 2019, the Fragile X July Jam in Derry, NH, raised over $6000 for FRAXA Research Foundation, to fund research to find effective treatments and ultimately a cure for Fragile X syndrome. Governor Chris Sununu’s policy director D.J. Bettencourt read an official proclamation calling for awareness of, and research on, Fragile X.

In Memory of Marilyn Ferguson

FRAXA Research Foundation Fundraising Campaigns July 16, 2019July 16, 2019

This campaign is in memory of Marilyn Ferguson

20 Landmarks Will Light Up for Fragile X Awareness Day

FRAXA Research Foundation Press Release July 15, 2019July 17, 2019autism

Newburyport, MA (July 15, 2019) — Today, FRAXA Research Foundation announces that 20 buildings, bridges and landmarks across the United States and Canada will be illuminated teal on Monday, July 22, to celebrate International Fragile X Awareness Day. The goal of the initiative is to raise awareness of Fragile X syndrome, the most common inherited cause of autism and learning disabilities worldwide.

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Current Research Grants • Genetic Rescue • Harvard University • Lee, Hungoo • Lee, Jeannie • Massachusetts General Hospital • Treatment Targets July 11, 2019August 5, 2019iPS, Pierce Family Fragile X Foundation

$90,000 FRAXA Research Grant for 2019 With support from The Pierce Family Fragile X Foundation FRAXA has awarded $90,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1. With a previous $180,000 grant from FRAXA Research Foundation and The Pierce Family Fragile X Foundation from 2016-2018, the team ran a series of studies aimed at reactivating FMR1. They found a method using combinations of drugs which spur the gene to produce its normal protein product. Using drug "cocktails" they are able to reactivate FMR1 in cells in their lab! Dr. Lee explains in this video. Jeannie Lee, MD, PhD Principal Investigator Hungoo Lee, PhD FRAXA Postdoctoral Fellow Total Funding to This Lab to Date: $270,000 Harvard University Medical School Massachusetts General Hospital by Jeannie Lee, MD, PhDRead more

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

FRAXA Research Foundation Clinical Trials • Recruiting June 27, 2019July 10, 2019CBD

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).

In Memory of Alice Woodard

FRAXA Research Foundation Fundraising Campaigns June 24, 2019July 16, 2019

This campaign is in memory of Alice Woodard

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA Research Foundation 2019 Grants • Current Research Grants • Disease Mechanisms • Kourdougli Nazim • Portera-Cailliau, Carlos • Treatment Targets • University of California at Los Angeles June 19, 2019June 19, 2019Autifony Therapeutics, hypersensitivity, neural network

FRAXA has awarded a $90,000 grant to Carlos Portera-Cailliau, PhD and Nazim Kourdougli, PhD at UCLA to investigate whether a novel drug can rescue sensory processing deficits in Fragile X mice. People with Fragile X have similar problems in sensory processing. This new drug acts on Kv3.1, a promising Fragile X treatment target also being pursued by UK-based Autifony Therapeutics based on FRAXA-funded research done at Yale.

Gene Therapy Translational Studies for Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Beasley, Lindsay • Cincinnati Children's Hospital • Current Research Grants • Erickson, Craig • Genetic Rescue • Gross, Christina • Pedapati, Ernest June 6, 2019June 6, 2019EEG

With a $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches for treating Fragile X syndrome at Cincinnati Children’s Hospital.

Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Nelson, Charles A. • Recruiting • Research Updates • Wilkinson, Carol June 5, 2019June 20, 2019autism, EEG, Pierce Family Fragile X Foundation, sound

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to join a study of brain differences using non-invasive EEG.

NIH Releases Fragile X Research Centers Funding and Strategic Plan Draft

FRAXA Research Foundation Advocacy June 5, 2019June 6, 2019FXPOI, FXTAS

The NIH has just posted their draft Fragile X research strategic plan for public comment. The NIH also released bridge funding for Centers for Collaborative Research in Fragile X, at the University of Massachusetts Medical School, Emory University, and the University of Texas at Southwestern.

Recruiting: ROCKET Fragile X Clinical Trial

FRAXA Research Foundation Clinical Trials • Recruiting May 30, 2019June 27, 2019Ovid Therapeutics

The ROCKET study is a clinical research study that will help determine if an investigational medicine, called OV101 or gaboxadol, is safe and effective in treating behavioral characteristics commonly present in people with Fragile X syndrome (FXS). The study will test three different doses of OV101.

Landmarks Light Up Fragile X Awareness Day

FRAXA Research Foundation Community • FRAXA Updates May 28, 2019July 17, 2019

On Fragile X Awareness Day, July 22, 2019, buildings, bridges, and monuments across the U.S. and Canada — including Niagara Falls — will be illuminated in FRAXA’s signature Teal to spread the word about Fragile X syndrome.

Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • Clinical • Clinical Trials • Current Research Grants • Lepage, Jean-Francois • Recruiting • University of Sherbrooke, Canada May 24, 2019June 25, 2019EEG, ERK, matrix metalloproteinase, metformin, MMP9

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.

FRAXA and Healx Planning Clinical Trials of Combination Treatments

FRAXA Research Foundation Drug Repurposing • FRAXA Updates • Healx May 16, 2019May 16, 2019baclofen, FRAXA-DVI, Healx, lithium, lovastatin, metformin, minocycline

Conducting Fragile X clinical trials of combination treatments can be a daunting task, since the number of possible combinations increases exponentially with the number of drugs and the various doses of each one. So Dr. Tranfaglia traveled to Cambridge, England, to meet with the scientists and advisors at Healx to brainstorm the best approaches to this challenge, with the aim of moving ahead as quickly as possible.

FX-Learn Clinical Trial is Enrolling Children with Fragile X

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical • Recruiting • Rush University Medical Center May 9, 2019May 10, 2019AFQ056, mGluR5, Novartis

The NeuroNext learning trial for children with Fragile X syndrome ages 3-6 is open for enrollment. This clinical trial of Novartis AFQ056 (an mGluR5 antagonist) is recruiting at 13 clinical sites across the U.S.

Developmental Profile of Glutamatergic Synapses in Fragile X

FRAXA Research Foundation 2019 Grants • Banke, Tue • Current Research Grants • Disease Mechanisms • University of Washington May 2, 2019June 25, 2019glutamate

FRAXA Research Foundation has awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke is investigating how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome. Dr. Banke recently left Aarhus University in Denmark to continue his research first as a visiting scholar and now as an assistant professor at the University of Washington.

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • Current Research Grants • Genetic Rescue • Turner, Raymond • University of Calgary, Canada • Zhan, Xiaoqin March 26, 2019March 26, 2019autism, Fragile X Research Foundation of Canada, ion channel, 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.

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • Barnes, Stephanie • Bear, Mark • Current Research Grants • Disease Mechanisms • Massachusetts Institute of Technology (MIT) • Treatment Targets March 7, 2019April 3, 2019NMDA

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.

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

FRAXA Research Foundation 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Drug Repurposing • FLENI Foundation • Resources • University of Chile March 1, 2019April 25, 2019Alzheimer's, EEG, FRAXA-DVI, seizure

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

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

FRAXA Research Foundation 2018 Grants • 2019 Grants • Berry-Kravis, Elizabeth • Clinical • Clinical Trials • Current Research Grants • Recruiting • Rush University Medical Center February 15, 2019May 13, 2019Alzheimer's, BPN14770, cyclic AMP, FDA, FRAXA-DVI, PDE4, Pierce Family Fragile X Foundation, Tetra Therapeutics

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.

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

FRAXA Research Foundation 2018 Grants • 2019 Grants • Current Research Grants • Disease Mechanisms • Joyce, Karen • McBride, Sean • Rowan University • Treatment Targets January 9, 2019January 31, 2019FDA, fruit fly, lithium, metformin, mGluR, sleep

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.

Kathan Pierce Honored as a New England Patriots Difference Maker

FRAXA Research Foundation Events Recap January 7, 2019Pierce Family Fragile X Foundation

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.

Novel Modulators of Potassium Channels to Treat Fragile X

FRAXA Research Foundation 2015 Grants • 2016 Grants • 2017 Grants • Disease Mechanisms • Kaczmarek, Leonard • Research Grant with Results • Treatment Targets • Yale University January 2, 2019April 2, 2019Autifony Therapeutics, autism, BK channel, glutamate, hypersensitivity, ion channel, mGluR, mGluR5, mRNAs, potassium channels, sound

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.

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

FRAXA Research Foundation FRAXA Updates • Research Updates December 19, 2018December 19, 2018Alzheimer's, BPN14770, FDA, FRAXA-DVI, PDE4, Tetra Therapeutics

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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