Today, Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome, press release below. The results do not depend on carving out a subset of patients or post hoc analysis.
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Centers for Collaborative Research in Fragile X Receive $25 Million Over Next 5 Years
National Institutes of Health (NIH) has announced funding for three Centers for Collaborative Research in Fragile X. The centers will receive $25 million over the next 5 years. Funding for the centers comes from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Mental Health (NIMH), and the National Institute of Neurological Disorders and Stroke (NINDS).
Read moreGenome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells
Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore were awarded a $67,500 research grant from FRAXA Research Foundation and that led to much greater governmental funding to expand this work. Their goal is to reactivate the gene which is silenced in people who have Fragile X syndrome.
Read moreMechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse
In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.
Read moreA Tribute to Doris Buffett, Philanthropist
We are sad to report that Doris Buffett passed away at the grand age of 92. Doris Buffett donated more than $100 million in her own money to help people who need it. Sister of billionaire Warren Buffett, Doris called FRAXA “The Gold Standard” in grass roots charities.
Read moreAripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account
The aim of this article is to discuss the use of Abilify (generic name: aripiprazole) as a treatment for people with Fragile X syndrome (FXS). As an “off-label” prescription, Abilify targets behaviors such as irritability, aggression, self-injury and severe tantrums.
Read moreScientists Find a New Way to Reverse Symptoms of Fragile X
FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.
Read moreCompanies Move to Advance Potential Cognitive Treatment for Fragile X
Tetra Therapeutics and Shionogi announced plans to expand their partnership supporting BPN14770, a treatment candidate for disorders marked by cognitive and memory deficits, including Fragile X syndrome and Alzheimer’s disease. The agreement builds on an earlier collaboration between the two companies, and aims to further accelerate BPN14770’s development and potential marketing. It is currently in clinical testing in both Fragile X and Alzheimer’s patients.
Read moreKetogenic Diet Eases Symptoms in Fragile X Male Mice
The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.
Read moreConsidering Available Drugs for Fragile X: My Favorite Combination (So Far)
Which of the available drugs are best for fragile X? We tend to think of drugs according to their primary activity in the body, but very few drugs are totally selective and specific. There are differences between drugs in any given class, and these differences may be critical. Most drugs have “off-target” effects which are usually considered side effects, and it is these side effects which can have key advantages, in some cases.
Read morefNIRS to Measure Treatment Response in Young Children with Fragile X
FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.
Read moreResults Reported: Using EEG Responses to Sound for Fragile X Drug Discovery
Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.
Read moreNational Institutes of Health Releases Fragile X Strategic Plan
FRAXA Program Coordinator, Elle Skala, and long time FRAXA supporter and previous Board Member, Mary Beth Busby, traveled to the National Institutes of Health earlier this week. The timing of this meeting was perfect because the National Institutes of Health (NIH) just released their long-anticipated Strategic Plan for Fragile X Syndrome, FXTAS, and FXPOI. It will guide federal Fragile X research funding for at least the next five years and open the door for continued funding of the Fragile X Research Centers of Excellence.
Read moreCorrecting Sensory Processing in Fragile X Mice by Modulating Kv3.1
FRAXA 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.
Read moreA Day in the Lab with FRAXA Investigator Dr. Tue Banke
Recently Laurie Bowler and her 19-year-old son Casey, who has Fragile X syndrome, visited FRAXA research grant recipient Dr. Tue Banke at his University of Washington laboratory. We hope you enjoy Laurie’s wonderful description of their adventure! FRAXA awarded $90,000 to Dr. Banke to study the Developmental Profile of Glutamatergic Synapses in Fragile X.
Read moreGene Therapy Translational Studies for Fragile X Syndrome
With this $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches using AAV (adeno-associated virus) vectors for treating Fragile X syndrome at Cincinnati Children’s Hospital. Dr. Craig Erickson elaborates about this in this video.
Read moreClinical 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.
Read moreDevelopmental Profile of Glutamatergic Synapses in Fragile X
FRAXA Research Foundation awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke investigate how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome.
Read moreEnhancing NMDA Receptor Signaling to Treat Fragile X Syndrome
Dr. Stephanie Barnes investigated 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 then continued 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. Results published.
Read moreFederal Funding for Fragile X Research Faces Snags
We in the Fragile X community have our advocacy work cut out for us to restore levels of federal funding for Fragile X research! Both of the main federal funders – the National Institutes of Health (NIH) and the Department of Defense (DOD) are letting Fragile X research lapse!
Read moreGanaxolone Fragile X Clinical Trial Showed Disappointing Results
Ganaxolone, an experimental drug from Marinus Pharmaceuticals which targets GABA receptors, did not show promise for Fragile X syndrome in a clinical trial.
Read moreCoffee, 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.
Read moreContacting Your Member of Congress to Advocate for Fragile X Research
Important information about how best to contact your Member of Congress in support of Fragile X advocacy, including tips, recommendations, best practices and how to get contact info for your state senators and representatives.
Read moreNKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model
With $258,000 in grants since 2013 from FRAXA Research Foundation, Dr. Anis Contractor and Dr. Qionger He at Northwestern University are exploring the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.
Read moreMega 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.
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