Repurposing Available Drugs to Treat Fragile X Syndrome – FRAXA Initiatives
FRAXA is 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.
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.
PIKE as a Central Regulator of Synaptic Dysfunction in Fragile X Syndrome
With $255,000 from FRAXA Research Foundation, Dr. Suzanne Zukin at Albert Einstein College of Medicine studied signalling pathways in Fragile X syndrome.
A Kinase Assay as a Biomarker for Fragile X Syndrome
Dr. Frank Kooy at the University of Antwerp investigated whether phosphorylation abnormalities are a suitable biomarker for clinical trials in Fragile X syndrome.
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.
The New York Times, “Medical Charities Once Advised on Coping With a Disease. Now They Try to Cure It”
Propelled by genome sequencing and social media, thousands of charities have sprung up to finance, coordinate and oversee research for cures. Katie Clapp and her son, Andy, who has Fragile X, a disease that causes intellectual disability, with a therapy horse at Gateway Farm in Merrimac, Mass. Ms. Clapp helped form a group that has spent millions on research for a cure.
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.
Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers
With $366,100 in FRAXA funding, researchers tested BK channel–opening drugs to fix sensory abnormalities in Fragile X mice; early results showed broad behavioral rescue.
Fragile X Mutant Mouse Models
With $375,000 in grants from FRAXA, Dr. David Nelson developed an array of advanced mouse models of Fragile X. These models are available at Jackson Labs (JAX).
Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome
FRAXA-funded research showed nonsense-mediated mRNA decay is overactive in Fragile X, pointing to existing NMD-suppressing drugs like caffeine as potential treatments.
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.
Rolling Stone Magazine: Luke’s Best Chance: One Man’s Fight for His Autistic Son
Rolling Stone’s Paul Solotaroff shares his son Luke’s Fragile X journey, exploring what adulthood looks like for families like ours.
Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene
Fulcrum Therapeutics in Cambridge, MA, aimed to develop small molecules to control gene expression. starting with with two diseases: Fragile X syndrome and a rare form of muscular dystrophy.
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.
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.