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.

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Dr. Jonny Lovelace and Dr. Khaleel Razak

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.

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Fragile X clinical trial combines two available drugs

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.

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Fragile X researchers Sean McBride, Tom Jongens

Fragile X Fruit Fly Research Bears Fruit

A FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome.

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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.

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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.

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FRAXA volunteer Emily Fluet

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!

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Peter Vanderklish, PhD, at Scripps Research Institute, FRAXA research grant

Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome

With this grant from FRAXA, Dr. Peter Vanderklish explored AMPK activators to treat Fragile X. Both metformin and resveratrol, found in red wine, are AMPK activators.

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Dr. Tom Jongens and Dr. Sean McBride study Fragile X Fruit Flies

Fruit Flies to Model and Test Fragile X Treatments

Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.

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Margaret King accepted the FRAXA Pioneer Award on behalf of Dr. Richard Jope, at the 2013 FRAXA Investigators Meeting

Analysis of Developmental Brain Dysfunction in Families

No strong behavioral similarities were found between parents and children with Fragile X, indicating family history may not guide clinical trial recruitment.

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Claudia Bagni, PhD, at University of Rome, FRAXA research grant

Crossroads of Fragile X and Alzheimers Research

Researchers at VIB Leuven in Belgium published evidence that a brain pathway involving the protein APP (Amyloid Precursor Protein) plays a vital role in development of Fragile X syndrome.

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Fragile X Treatment: New Research Directions

In the wake of negative results from several high-profile clinical trials in Fragile X, we find ourselves questioning many of our previous assumptions about the nature of this disorder.

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Fragile X Team UMass

Fragile X Programs at UMASS – University of MA, Worcester

Fragile X Syndrome Behavioral Health Clinic The Center for Autism and Neurodevelopmental Disorders (CANDO) is opening a specialty clinic for individuals with Fragile X Syndrome (under the direction of Dr. Jean Frazier) to evaluate and provide treatment for behavioral challenges.

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Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

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Molecular Mechanisms of Cytoskeletal Regulation by FMRP

With FRAXA funding, Dr. Jaffrey linked FMR1 loss to abnormal dendritic spines via RhoA signaling, suggesting RhoA-targeted therapies could help treat Fragile X.

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Fragile X compound from Neuren

Neuren’s NNZ-2566 Shows Clinical Benefit in Rett Syndrome Trial

This isn’t a Fragile X trial, but the Neuren compound, NNZ-2566, that is in trials now for Fragile X has shown significant positive effects in a Phase 2 trial for Rett syndrome.

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Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Clinical Trials Outcome Measures

There is a critical need for reliable biomarkers and clinical outcome measures for Fragile X syndrome. Treatment trials depend on this.

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Andy and MIke Tranfaglia

Why Did Fragile X Clinical Trials of mGluR Antagonists Fail?

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.

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Fragile X Clinical Trial: Novartis Trial Results Are In, and They’re Not Pretty

This year’s Gordon Conference just finished, and Novartis presented their results. To say that the trial results for AFQ056 were disappointing would be the understatement of the century!

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Novartis Discontinues Development of mavoglurant (AFQ056) for Fragile X Syndrome

Mavoglurant trials in Fragile X did not show improvement vs. placebo, leading Novartis to end the program and wind down the open-label extension.

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Social Behavior as an Outcome Measure for Fragile X Clinical Trials

FRAXA funding helped identify reliable social behavior tests in Fragile X mice and showed an mGluR5 treatment could improve sociability, guiding future trials.

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Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X

Dr. Jope found that lithium (at usual therapeutic doses) and investigational GSK3 inhibitors can reverse a number of cognitive deficits in FMR1 knockout mice.

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Tori Shaeffer

Development of a Novel GABA-A Agonist in Fragile X Syndrome

FRAXA funded analysis of a selective GABA-A drug for Fragile X, leading to a clinical trial at Cincinnati Children’s to test this potential treatment.

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klann lab

The mTOR Pathway in Fragile X Syndrome

FRAXA-funded research showed that blocking S6K1 in Fragile X mice improves social, behavioral, and physical symptoms.

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