10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram

10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram

In this video we hear from FRAXA Investigators Dr. Patricia Cogram, Professor at the University of Chile, and Dr. Elizabeth Berry-Kravis, Professor at Rush University Medical Center as they reflect on the progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.

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Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

Most Fragile X research has focused on one type of brain cells: neurons. But mounting evidence point to problems with astrocytes, star-shaped cells which are vitally important to normal brain function. This team is working to understand how astrocytes are involved in Fragile X and develop treatment approaches that targets astrocytes alone.

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Developmental Motor Phenotype in Fragile X Syndrome

Developmental Motor Phenotype in Fragile X Syndrome

One of the lesser known signs of Fragile X is unsteady walking. This is also very easy to evaluate in the clinic: no blood tests are required! With a $100,000 grant from FRAXA Research Foundation, this team will develop objective new outcome measures of gait for future treatment trials and also to see if exercise could improve other symptoms of Fragile X.

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Pharmacological Modulation of Nicotinic Signaling

Pharmacological Modulation of Nicotinic Signaling

Nicotine — familiar to any smoker — tickles nicotinic acetylcholine receptors in the brain. These receptors are key to important brain functions including learning and memory. This team will explore whether drugs that dampen these receptors can improve cognitive function in Fragile X.

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Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.

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Versatile Drug Screening Platform for Fragile X Syndrome

Versatile Drug Screening Platform for Fragile X Syndrome

Many experts believe that combinations of drugs may be needed to best treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project — a collaboration between a top university research team and an innovative AI startup both based in Belgium — tackles this challenge.

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Human FMR1 Isoform-Specific Regulation of Translation and Behavior

Human FMR1 Isoform-Specific Regulation of Translation and Behavior

Fragile X syndrome is caused by lack of one protein, FMRP. But this one protein occurs in different variations. Do the different versions of FMRP have different roles in the brain, and if so, is there one that’s key? If we could replace FMRP to treat Fragile X syndrome, which version would we use?

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Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

Tetra Therapeutics has launched large scale clinical trials of their phosphodiesterase (PDE) inhibitor for males ages 12-45 with Fragile X syndrome. FRAXA Research Foundation’s basic and translational research pointed the way to phosphodiesterase inhibitors to treat Fragile X many years ago.

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Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain

Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain

The brain’s balance is maintained by two types of neurons: those that excite and those that inhibit activity. Like yin and yang, this balance is essential. This team has found fewer than normal inhibitory cells in the brains of Fragile X mice. They are now working to pinpoint this abnormality and find ways to restore the normal balance and function.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA has awarded $140,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1.

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Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.

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Transcriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome

Transcriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome

The Fragile X field needs biomarkers to accurately measure the effects of potential treatments in both Fragile X mice and in humans. Dr. Ozaita and his team have found molecular features in the brain that can serve as an objective signature for the syndrome. They will use this tool to test cannabidiol and two other drugs in mice.

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Characterization and Modulation of microRNAs in Fragile X Syndrome

Characterization and Modulation of microRNAs in Fragile X Syndrome

Could microRNAs be a new path to treatment of Fragile X syndrome? MicroRNAs are disrupted in Fragile X, and so this team will work to understand what is going wrong and explore ways to correct it with drugs which directly target microRNAs.

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Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Did you know that depression is more common in those with autism and/or Fragile X? Even more disturbing is the discovery that current treatments for depression do not work in Fragile X mice. With this grant, the team will work to develop a rapid screening tool to identify FDA-approved drugs which can treat depression in people with Fragile X syndrome.

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mRNA Therapy for Fragile X Syndrome

mRNA Therapy for Fragile X Syndrome

Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.

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Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

This study from the Wilkinson Lab at Boston Children’s Hospital is investigating how differences in brain activity affect learning, language and behavior in children with Fragile X syndrome, Down syndrome, and Autism Spectrum Disorder. One of the goals is to find brain markers that predict cognitive, language, and behavioral difficulties in these groups. Another goal is to better understand the differences in brain activity between young children with and without Fragile X and Down Syndrome, and whether these differences are similar in children with Autism Spectrum Disorder.

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Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of brain differences using non-invasive EEG.

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Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.

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Potential Upcoming Advances in Fragile X Research

Potential Upcoming Advances in Fragile X Research

Dr. Peter Kind, Director of the Patrick Wild Centre and Professor of Developmental Neuroscience at the University of Edinburgh, and Dr. Nahum Sonenberg, James McGill professor of biochemistry at McGill University, share their optimism about the next 10 years of Fragile X research. They discuss where they think the next big discoveries will emerge.

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Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.

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Reactivating the Fragile X Gene in Young Mice Reverses Symptoms

Reactivating the Fragile X Gene in Young Mice Reverses Symptoms

A new FRAXA-funded research project offers hope that Fragile X syndrome could be treated by reactivating the gene which is shut down in people with the syndrome. Researchers at the University of California, Riverside report that they were able to reduce FXS symptoms by inserting the FMR1 gene into the brains of very young mice.

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Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

The researchers are developing next-generation drugs called peptidomimetics, using the functional features of FMRP. If they succeed, the hope is that we will have new drugs that could make up for the loss of FMRP, thus treating Fragile X syndrome.

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FX-Learn Clinical Trial for Children with Fragile X

FX-Learn Clinical Trial for Children with Fragile X

Thirteen centers across the US enrolled children with Fragile X in a large-scale clinical trial of Novartis AFQ056. Dr. Elizabeth Berry-Kravis and colleagues aim to show that this targeted treatment — an mGluR5 blocker for Fragile X which failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.

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Cannabinoids as a Treatment for Fragile X Syndrome

Cannabinoids as a Treatment for Fragile X Syndrome

Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.

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