Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics
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 analysisAn analysis after seeing the test results, and it can lead to bias, because researchers are able to test the data in any way that produces a favorable result. This trial is the result of many years of rational drug discovery funded by FRAXA. The therapeutic target, PDE4, has been identified by multiple researchers including FRAXA Investigators Tom Jongens, Sean McBride, Elizabeth Berry-Kravis, Nobel laureate and FRAXA scientific advisor Eric Kandel. PDE4 is one of the best validated Fragile X treatment targets and we believe this is a genuinely disease-modifying therapy. (Because PDE4 inhibitors are famous for causing nausea; Tetra's compound targets a subtype of PDE4D, thus largely avoiding GI upset.) Many researchers have expressed doubtsRead more

University of Kansas BRAIN Lab Seeking Postdoctoral Fellow

University of Kansas BRAIN Lab Seeking Postdoctoral Fellow

The Life Span Institute at the University of Kansas currently is seeking one postdoctoral fellow interested in advancing their research skills and progressing towards a career as an independent, externally funded investigator studying autism spectrum (ASD) or related neurodevelopmental disorders (e.g., Fragile X syndrome, Down syndrome).

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Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account

Aripiprazole (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.

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Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.

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FRAXA Biotech Games™ Reimagined as Online Event for 2020

FRAXA Biotech Games™ Reimagined as Online Event for 2020

FRAXA Biotech Games™, a gathering of Boston area biotech companies to network in a friendly setting, and form new relationships and potential collaborations while raising money for Fragile X research, is adapting its 2020 event to maintain its commitment to Fragile X and autism research while prioritizing the health and safety of its contestants and volunteers. The organization’s traditional annual event will be transformed into an online interactive experience September 9-11, 2020.

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Scientists Find a New Way to Reverse Symptoms of Fragile X

Scientists 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.

Bear lab (Bear 3rd from left, McCamphill on right)Read more

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

Ketogenic 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.

Fragile X Researcher, Cara Westmark, PhDRead more

Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast

Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast

In this double-bill episode of The Genetics Podcast, Dr. Patrick Short talks to two key rare disease researchers in the field: Dr. Bruce Bloom, CCO of Healx, and Dr. Mike Tranfaglia, CSO of FRAXA. Both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing to aid in finding effective treatments for Fragile X.

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Considering Available Drugs for Fragile X: My Favorite Combination (So Far)

Considering 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.

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Less Active Immune System Evident in Fragile X Patients, Study Suggests

Less Active Immune System Evident in Fragile X Patients, Study Suggests

People with Fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications of immune dysregulation in Fragile X syndrome,” was published in the European Journal of Neurology.

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Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

Results 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.

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Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

With a $90,000 grant from FRAXA, Dr. McCullagh and Dr. Achem Klug at the University of Colorado investigated whether auditory neural circuits are altered in Fragile X mice. They saw minor differences in these mice compared to B6 (control) mice in several measures of auditory acuity. Fmr1 mice had increased latency to the startle response for almost all conditions compared to B6 mice, suggesting altered timing to acoustic cues. These experiments show that, consistent with patient reports and anatomical/physiological data, the auditory system is altered in a mouse model of FXS, though with some potential compensation leading to a subtle behavioral impact.

Elizabeth MCullough and Achim KlugRead more

Drug Tolerance is Likely Culprit Behind the Failure of MGluR5 Clinical Trials

Drug Tolerance is Likely Culprit Behind the Failure of MGluR5 Clinical Trials

We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.

Bear lab (Bear 3rd from left, McCamphill on right)Read more