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
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.
Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research
4 Countries – 10 Teams – $1 Million for finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure.
Can STEP Inhibitors Treat Fragile X Syndrome? Yale Professor Investigates
Yale Professor Paul Lombroso, MD, is testing STEP inhibitors to improve cognitive and social behaviors in those affected by Fragile X syndrome.
Abnormalities of Synaptic Plasticity in the Fragile X Amygdala
With FRAXA funding, Dr. Sumantra Chattarji at NCBS explored how Fragile X alters amygdala function. Results were published.
Resources for Families: Fragile X – A to Z and Medication Guide
FRAXA welcomed intern Emily Fluet from the University of St. Andrews, who transformed our Fragile X A–Z and Medication Guide into online resources!