FRAXA Wins Award for Drug Repurposing
Cures Within Reach, the leading global nonprofit focused on repurposing research as a fast track to saving patient lives, has awarded FRAXA Research Foundation the 2017 Golan Christie Taglia Patient Impact Philanthropy Award for efforts to find treatments for the rare disease Fragile X syndrome.
Metformin, Diabetes Drug, Potential Fragile X Treatment
Dr. Nahum Sonenberg’s research showed the diabetes drug metformin can correct key signaling defects in Fragile X, leading to clinical trials of this safe, repurposed therapy.
Fragile X Nervous (System) Breakdown
Dr. Lynn Maquat’s research shows Fragile X disrupts neuron maturation and RNA regulation, impairing brain signaling—pointing to new targets like NMD for drug development.
Repurposing Available Drugs to Treat Fragile X Syndrome – FRAXA Initiatives
FRAXA has focused on identifying existing, approved drugs that could be repurposed for Fragile X, allowing potential treatments to move faster and at lower risk than starting from scratch. We’ve worked to advance the most promising candidates toward real-world use.
Fragile X Research Tackles High Anxiety – Peter Vanderklish
Peter Vanderklish studies the brain circuits driving severe anxiety in Fragile X, identifying targets in stress pathways to develop treatments that reduce anxiety and improve daily life.
University of Cambridge Startup Healx is Rapidly Identifying Existing Drugs to Help Fragile X Patients
FRAXA awarded $44,000 to Healx for drug repurposing to find new treatments for Fragile X syndrome. The results include eight top "hits" which show promise for Fragile X.
Trial and No Error: Better Outcomes for Clinical Trials in Fragile X Syndrome
The team investigated a potential microRNA blood-based biomarker that can be used as a clinical outcome measure for Fragile X syndrome.
NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome
Carolyn Beebe Smith studies sleep disruptions in Fragile X and tests whether improving sleep with existing drugs can reduce symptoms and enhance behavior.
New Fragile X Clinical Trial for Children Launching in June 2017
Elizabeth M. Berry-Kravis, MD, PhD, has launched a large-scale clinical trial to study effects of AFQ056, an mGluR5 blocker, on learning in young children with Fragile X syndrome.
Mark Bear’s Goal: Disease-Modifying Treatments for Fragile X
Mark Bear pioneered the mGluR theory of Fragile X, linking excess protein synthesis to symptoms and driving development of disease-modifying treatments now tested in clinical trials.
Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome
What causes hyperexcitability? Dr. Kimberly Huber seeks to understand how FMRP regulates connections between brain cells and the function of brain circuits.
Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina
FRAXA funds biomarker research to develop objective, biological measures of Fragile X, helping predict treatment response, guide trials, and move therapies toward FDA approval.
Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene
A new company has launched that will invest tens of millions in reactivating the Fragile X gene. With $55 million in investment funds, Fulcrum Therapeutics in Cambridge, MA, aim to develop small molecules to control gene expression. These potential new treatments would be based on controlling genetic on- and off-switches of disease genes. Fulcrum will start with two diseases: Fragile X syndrome and a rare form of muscular dystrophy. FRAXA is funding one of the founding scientists, Jeannie Lee, MD, PhD, of Harvard University, and has been working with others on the new Fulcrum team.
Cornell University Researcher Looks to Restore Fragile X Protein in Neurons
Cornell researcher Samie Jaffrey is developing ways to restore FMRP in specific brain cells, defining how much, where, and how the protein must be expressed to reverse Fragile X.
Brain Revolution: French Scientists Bardoni and Maurin Study FMRP
Bardoni and Maurin study how FMRP interacts with other molecules in the brain, identifying targets and signaling pathways that could lead to new drug therapies for Fragile X.
Memory Lane: New Research to Improve Memory in Fragile X Mice
University of Texas at Austin Researchers Daniel Johnston, PhD, and Jennifer J. Siegel, PhD, explore ways to Iimprove memory in Fragile X mice.
Achieving Predictability: Developing Biomarkers for Fragile X Patients
FRAXA funds biomarker research to identify objective, measurable signals of Fragile X, helping predict who will respond to treatments and improving clinical trial success.
University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells
University of Michigan scientists Peter Todd, MD, PhD, and postdoctoral fellow Jill Haenfler, Ph.D., are adapting CRISPR to reactivate the FMR1 gene to reverse Fragile X syndrome.
New compound from Anavex Improves Learning and Behavior in Fragile X Mice
The investigational drug Anavex 2-73 was able to improve intellectual, learning and hyperactivity measures in a mouse model of Fragile X syndrome. This is a sigma-1 receptor agonist being developed for autism spectrum disorders and Alzheimer’s disease.
Meltdown no more? Targeting Hypersensitivity in Fragile X
Meet Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, FRAXA-funded researchers at University of California, Riverside who are tackling Fragile X.
Researcher David Nelson, PhD, Explores New Cell Strategies for Fragile X Syndrome, FXTAS and FXPOI
David Nelson co-discovered the FMR1 mutation which causes Fragile X syndrome and developed key mouse models, enabling global research aimed at finding treatments for the disorder.
Double Down: Fragile X Clinical Trial Combines Two Available Drugs
FRAXA funded a trial combining lovastatin and minocycline to test whether targeting multiple pathways can improve brain activity and behavior in Fragile X.
The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders
Harvard researcher Jeannie T. Lee, MD, PhD, moves closer to turning on select genes on the X chromosome to treat people with X-linked disorders.
Fragile X Fruit Fly Research Bears Fruit
A new FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in the daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome (FXS). The study also reveal a metabolic pathway that can be targeted by new and already approved drugs to treat Fragile X patients, notably metformin.