Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

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Parkinson’s Therapy May Hold Promise for Fragile X

Parkinson’s Therapy May Hold Promise for Fragile X

A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model.

“One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.

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Bryostatin-1 in Long-term Use Seen to Arrest Fragile X Symptoms in Mouse Model

Bryostatin-1 in Long-term Use Seen to Arrest Fragile X Symptoms in Mouse Model

Long-term, but not short-term, treatment with bryostatin-1 — Neurotrope’s lead investigational therapy — arrested such behavioral and cognitive symptoms as hyperactivity, difficulties with daily life activities, and learning and memory deficits in a mouse model of Fragile X syndrome.

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A Personal Touch to Supporting Fragile X Research

A Personal Touch to Supporting Fragile X Research

As we get closer to the holiday season and the end of the year approaches, we start to reflect on what we have accomplished throughout the year. Did we keep our New Year’s Resolution? Did we spend more time with family and friends? We at FRAXA want to remind you that there is no better time than the present to make a difference. Before the year ends, you can have an impact.

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FRAXA Welcomes Elle to the Team!

FRAXA Welcomes Elle to the Team!

Ellen Skala, known as Elle, has joined FRAXA Research Foundation as Program Coordinator. Elle is excited to work on the FRAXA team and we are excited to have her on board! She has experience in grant writing and personal fundraising campaigns. In her new role as program coordinator, Elle will communicate with FRAXA supporters throughout the country, connecting them to the mission and assisting them in fundraising and awareness-raising activities.

Ellen SkalaRead more

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

Antonella Borreca, PhD, and Alberto Martire, PhDRead more

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

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

FRAXA Research Foundation has made a 2017 grant of $90,000 to Probal Banerjee, PhD, at the College of Staten Island (CUNY). He is exploring a therapeutic strategy based on correcting abnormalities in the PKCepsilon signaling pathway in Fragile X.

Banerjee team at College of Staten IslandRead more

Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms

Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms

With a $90,000 grant from FRAXA Research Foundation awarded in 2017, Dr. Clinton Canal targets seratonin receptors. “There are 15 unique serotonin receptors (at least) and many of them impact the function of brain circuits that are impaired in neurodevelopmental and psychiatric disorders,” said Dr. Canal. “Results from this project could guide new drug discovery or drug repurposing for Fragile X.”

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A Kinase Assay as a Biomarker for Fragile X Syndrome

A Kinase Assay as a Biomarker for Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2017-2018, Dr. Frank Kooy at the University of Antwerp, Belgium, is investigating whether phosphorylation abnormalities are a suitable biomarker for the Fragile X syndrome.

Frank Kooy labRead more

Employer Matching Gift List

Many companies sponsor matching gift programs and will match your gift to FRAXA. To find out if your company has a matching gift policy, check the list below or contact your company’s HR office. If your company is eligible, request a matching gift form and send it completed and signed with your contribution.

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Bryostatin Restores Learning and Memory in Adult Fragile X Mice

Bryostatin Restores Learning and Memory in Adult Fragile X Mice

A bizarre marine critter found off the California coast — Bugula neritina— is the only known source of a potential new Fragile X treatment, Bryostatin. Last month, FRAXA sat down with scientists from Neurotrope BioScience, a specialty biopharmaceutical company developing medicines for rare diseases and Alzheimer’s based on Bryostatin. Their Fragile X program is based on research by a West Virginia team led by Daniel Alkon, MD, which showed that Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult Fragile X mice.

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Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

With a $349,000 grant from FRAXA Research Foundation from 2008-2015, Dr. Paul Lombroso and his team at Yale University researched if inhibiting STEP could reduce behavioral abnormalities in Fragile X syndrome. Results published.

Paul Lombroso, PhD, Yale University, FRAXA InvestigatorRead more

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

One of the features of the Fragile X mouse model which is relevant to the human Fragile X syndrome (and autism) is social behavior. Several tests show consistent social behavioral abnormalities in the Fragile X mouse model. With a $140,000 grant from FRAXA Research Foundation in 2012-2013, Dr. Willemsen at Erasmus University used social behavior tests to measure the effectiveness of several drug strategies.

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Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

Dr. Emily Osterweil was awarded the FRAXA Pioneer Award at the opening dinner of the 2011 FRAXA Investigators Meeting in Southbridge, MA for her work demonstrating that Lovastatin could treat Fragile X. Dr. Osterweil conducted her experiments in the MIT laboratory of Dr. Mark Bear and has since established her own laboratory at the University of Edinburgh. The team discovered that lovastatin, a drug widely prescribed for high cholesterol, can correct excess hippocampal protein synthesis in the mouse model of FXS and can prevent epileptogenesis. The work is published in the prestigious neuroscience journal Neuron: Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome.

Dr. Emily OsterweilRead more

Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

With a $66,000 grant from FRAXA Research Foundation in 2013, Dr. Lucia Ciranna and her team from the Universita di Catania tested if specific serotonins could reverse abnormal phentotypes found in Fragile X syndrome.

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What Works, and What Doesn’t

At the start, it’s always hard to know what methods will work best for something as complex as the development of disease-modifying treatments for Fragile X. But, we’ve always tried to let the science lead us down the right path. At this point, the results are unequivocal, and they have shaped how we are looking for the Next Great Thing in Fragile X treatments.

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Channelopathies: Altered Ion Channels in Fragile X Syndrome

Channelopathies: Altered Ion Channels in Fragile X Syndrome

With a $95,000 grant from FRAXA Research Foundation from 2010-2011, Dr. Daniel Johnston and Dr. Darrin Brager at the University of Texas at Austin investigated alterations in ion channels in Fragile X syndrome. They explored potential therapeutic effects of drugs which open and close these channels. Results published.

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Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

With a $65,000 grant from FRAXA Research Foundation in 2005, Dr. Berry-Kravis at the Rush University Medical Center conducted a pilot clinical trial of lithium in 15 patients with Fragile X syndrome. Results published.

Elizabeth Berry-Kravis, MD, PhD, Fragile X researcherRead more

The miRNA Pathway in Fragile X Syndrome

With a $120,000 grant from FRAXA Research Foundation over 2008-2009, Drs. Oostra and deVrij at Erasmus University studied miRNA and Fragile X. miRNAs are RNAs that can repress the translation of target mRNAs – therefore they can play a role in protein synthesis within the neuron. Preliminary results showed large differences in miRNA expression in the Fragile X mouse brain compared to the wild type. This lab investigated the effect of mGluR5 antagonists on the levels of these specific miRNAs.

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Role of Matrix Metalloproteinases (MMP-9) in Fragile X

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

With a $220,000 grant from FRAXA Research Foundation over 3 years, Dr. Iryna Ethell from the University of California at Riverside studied the regulation of dendritic structure by matrix metalloproteinases and other extracellular signaling pathways. This work identified a major treatment strategy for Fragile X with the available MMP-9 inhibitor, minocycline.

Iryna Ethell, PhD, at University of CaliforniaRead more

Basic Mechanisms of Disease and Potential Therapeutic Strategies

Basic Mechanisms of Disease and Potential Therapeutic Strategies

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of Fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of Fragile X. The Warren lab made the original discovery of the Fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from Fragile X patients, and determination of other forms of mutation in the Fragile X gene, other than the most common trinucleotide repeat expansion.

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Role of FMRP in the Regulation of Synaptic Plasticity

Role of FMRP in the Regulation of Synaptic Plasticity

With more than $1,000,000 from FRAXA Research Foundation over 13 years, Drs. William Greenough and Ivan-Jeanne Weiler at the University of Illinois uncovered the role of FMRP at synapses, leading to much of the subsequent research on Fragile X syndrome.

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