Spectrum News – Newly Discovered Aspects of Fragile X Spur Next Wave of Drugs
Many drugs for Fragile X syndrome have failed in large clinical trials, but candidates that target new aspects of the condition may fare better.
NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model
Dr. Anis Contractor and Dr. Qionger He investigated the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.
Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials
FRAXA funded MRI research to track brain connectivity changes in Fragile X. This could yield objective biomarkers for testing treatments in mice and humans.
$16,560 Raised for Fragile X Research at Callum Cup III
Millburn FC’s 3rd Annual Callum Cup raised funds for Fragile X research, honoring Callum Murphy, son of goalkeeper Andrew Murphy.
Mega Green Tea Extract to Treat Fragile X?
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 memory, attention, and mental flexibility improvements.
How Promising is CRISPR for Fragile X?
Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was 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 cure Fragile X.
Niagara Falls went Teal for Fragile X Awareness
Niagara Falls glowed teal on July 22 for Fragile X Awareness Day! Huge thanks to the Illumination Board for this stunning show of support.
Retinoic Acid Signaling is Blocked by Fragile X Mutation
With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.
Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens
Congrats to FXAM! Their months of effort paid off with a $35K grant to support Dr. Todd’s groundbreaking Fragile X CRISPR research.
Ringing the Bell at the New York Stock Exchange for Fragile X Awareness
FRAXA and NFXF rang the NYSE opening bell to raise awareness for Fragile X—an incredible moment shared worldwide on CNBC!
Activity-Dependent Translational Profiling in Fragile X Neurons
FRAXA funded new tools at UC Berkeley to track which proteins Fragile X neurons make during signaling, to find targets that improve learning and brain function.
Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome
This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), 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
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
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
This FRAXA grant studied why people with Fragile X are overly sensitive to sound and tested drug strategies to calm the brain’s overactive auditory circuits.
22nd Patrick’s PALS Basketball Tournament Raises $125,000 for Fragile X Research!
Patrick’s PALS 22nd Annual 3-on-3 Tournament packed in 36 teams and raised $125K for FRAXA Research Foundation!
Meet Drew!
Meet #FriendofFRAXA Drew! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Three-Dimensional Model for Identifying Fragile X Treatments
With a $90K FRAXA grant, Emory scientists are creating Fragile X brain organoids—3D human cell models—to reveal disease mechanisms and guide new treatments.
Pharmacological Tolerance in the Treatment of Fragile X Syndrome
FRAXA funded MIT work to probe tolerance to key Fragile X drugs, including mGluR5 inhibitors and arbaclofen, and to identify ways to sustain long-term treatment benefits.
Lysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X
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
Boston Children’s Hospital hosted a Fragile X conference with FRAXA-funded researchers Dr. Craig Erickson & Dr. Carol Wilkinson presenting.
Meet Zack!
Meet #FriendofFRAXA Zack! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Takeaways from Fragile X Advocacy Day
At my first Fragile X Advocacy Day, I met with Congress and families, advocating together for research and hope.
FRAXA Research Grants Drive Big Investments in Fragile X
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.