baclofen Archives • Fragile X Research - FRAXA Research Foundation

Healx Raises $56M to use AI to Find Treatments for Fragile X & Other Rare Diseases

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

Healx has secured $56M in new financing to build a clinical-stage portfolio for rare diseases, including treatments for Fragile X syndrome, and to launch a global Rare Treatment Accelerator program. Where the traditional drug discovery model takes more than a decade and can run into the billions of dollars, Healx’s AI-driven approach makes the process faster, more efficient and cost-effective.

Repurposing Available Drugs to Treat Fragile X Syndrome – FRAXA Initiatives

Michael Tranfaglia, MD Drug Repurposing • Research Updates February 10, 2017July 26, 2018arbaclofen, autism, baclofen, FRAXA-DVI, glutamate, GSK3, Healx, hypersensitivity, lithium, lovastatin, MAP1b, matrix metalloproteinase, metformin, mGluR, minocycline

FRAXA Research Foundation was founded in 1994 to fund biomedical research aimed at finding a cure for Fragile X syndrome and, ultimately, autism. We prioritize translational research with the potential to lead to improved treatments for Fragile X in the near term. Our early efforts involved supporting a great deal of basic neuroscience to understand the cause of Fragile X. By 1996, these efforts had already begun to yield results useful for drug repurposing. To date, FRAXA has funded well over $25 million in research, with over $3 million of that for repurposing existing drugs for Fragile X. Here are some examples of FRAXA-funded work on repurposing available drugs for Fragile X syndrome: Lithium In the mid-1990s, the Greenough lab at the University of Illinois discovered that FMRP, the protein missing in Fragile X, is rapidly translated in dendrites in response to stimulation of glutamate receptors. FRAXA funded preclinical validation of this discovery in theRead more

NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome

Theodore Coutilish Research Updates • Smith, Carolyn B. November 17, 2016July 2, 2018Alzheimer's, autism, baclofen, FDA, lithium, sleep

Our sons with Fragile X Syndrome typically go to bed early and rise early. Sometimes they jump on us while we are sleeping at 3 a.m., excited to start their day. For heaven’s sake, whY, wHY, WHY? The answer may come from Carolyn Beebe Smith, PhD, senior investigator, Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland. She is studying why children, in particularly boys, with FXS have problems sleeping. “We know sleep is important for many aspects of brain function,” said Dr. Smith, who received a PhD from the University of London where she studied the chemical pathology of Alzheimer’s for which she was awarded the Queen Square Prize. “In studies of healthy mice, we have shown restricted sleep during brain development can result in long-lasting changes in behavior. We are interested in understanding if sleep problems contribute to severity ofRead more

Why Did Fragile X Clinical Trials of mGluR Antagonists Fail?

Michael Tranfaglia, MD Clinical Trials • Research Updates August 15, 2014November 19, 2019AFQ056, arbaclofen, baclofen, drug tolerance, lithium, mGluR, mGluR5, minocycline, Novartis

by Michael Tranfaglia, MD. In my opinion, the Fragile X clinical trials of AFQ056 sponsored by Novartis failed because of a dose range that was inadequate for Fragile X, and because of the unexpected development of tolerance.

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

FRAXA Research Foundation 2012 Grants • 2013 Grants • Clinical • Completed Research Grant • Drug Repurposing • Erasmus University Rotterdam • FRAXA Research Grants • Treatment Targets • Willemsen, Rob September 13, 2013April 25, 2018AFQ056, AMPA, AMPAkines, autism, baclofen, ERK, mGluR5, minocycline, NMDA, Novartis

One of the features of the Fragile X mouse model which is relevant to the human Fragile X syndrome (and autism) is social behavior. Several tests show consistent social behavioral abnormalities in the Fragile X mouse model. With a $140,000 grant from FRAXA Research Foundation in 2012-2013, Dr. Willemsen at Erasmus University used social behavior tests to measure the effectiveness of several drug strategies.

Genome-wide Epigenetic Markers in Fragile X

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grant • Cornell University • Disease Mechanisms • Oh, Ji-eun • Toth, Miklos • Treatment Targets February 5, 2009January 16, 2019baclofen, epigenetics, GABA, sound, startle

With $45,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth of Cornell University studied epigenetics (ie factors other than the gene itself) which can determine symptom severity in Fragile X.

Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice

FRAXA Research Foundation 2001-2005 Grants • 2006-2010 Grants • Completed Research Grant • Cornell University • Disease Mechanisms • Oh, Ji-eun • Toth, Miklos • Treatment Targets October 16, 2006January 16, 2019baclofen, GABA, sound, startle

With $110,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth from Cornell University discovered increased startle response in Fragile X mice and that baclofen can correct this phenotype.