In a heartfelt, humorous and insightful speech, Elizabeth Higgins Clark imparts the inspiration and love she has received from her brother, David, who has Fragile X Syndrome. Fragile X is the most common form of genetically transferred intellectual disability. Clark gave the following speech in Danbury, Connecticut at the 11th Annual Fall X Ball benefitting the FRAXA Research Foundation.
Read moreFragile X Syndrome Protein Linked to Breast Cancer Progression
Claudia Bagni (VIB/KU Leuven, Belgium, and the University of Rome, Italy) and colleagues have identified the way Fragile X Mental Retardation Protein or FMRP contributes to the progression of breast cancer. The researchers demonstrated that FMRP acts as a master switch controlling the levels of several proteins involved in different stages of aggressive breast cancer, including the invasion of cancer cells into blood vessels and the spread of these cancer cells to other tissues forming metastasis.
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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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Translation-Independent Functions of FMRP in Excitability, Synaptic Transmission and Plasticity
With a $140,000 grant from FRAXA Research Foundation, Dr. Vitaly Klyachko and team at Washington University explored STP (short-term plasticity) in Fragile X, namely looking at presynaptic calcium dynamics as a major underlying cause of the STP defects.
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Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X
With $208,000 in funds from FRAXA Research Foundation, Dr. Richard Jope and his team at the University of Miami tested whether newly developed, highly specific inhibitors of GSK3 can reduce behavioral abnormalities in Fragile X mice.
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Development of a Novel GABA-A Agonist in Fragile X Syndrome
Of the many genes known to be regulated by FMRP, the gamma-aminobutyric acid receptor A (GABA(A)), is gaining attention as a potential target for the treatment of FXS. Mounting evidence suggests decreased expression and functioning of GABA(A) is involved in the pathophysiology of FXS. Non-selective GABA(A) agonism in animal models of FXS has been associated with normalization of morphological features, GABA(A) expression, and behavior. However, the clinical use of these agents in Fragile X is associated with unwanted side-effects, such as sedation, dulling of cognition, and occasional paradoxical agitation, which limits their use.
Read moreThe mTOR Pathway in Fragile X Syndrome
With a $90,000 grant from FRAXA Research Foundation over 2012-2013, Dr. Eric Klann and Postdoctoral Fellow Dr. Aditi Bhattacharrya of New York University investigated alterations in the mTOR pathway in Fragile X syndrome – which is also known to be defective in several forms of autism. Their work was published in September 2012 and received international attention.
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Matrix Metalloproteinase Therapeutic Treatments for Fragile X Syndrome
With a $157,000 grant from the FRAXA Research Foundation in 2012-2013, Dr. Kendal Broadie and Dr. Cheryl Gatto worked to define the distinct but also overlapping roles for MMP-1 and MMP-2 in synaptic structural and functional development. In drug studies with Fragile X fruit flies, they will be testing a range of MMPIs in drug treatments to compare effectiveness during development and at maturity, in order to define the contributions of FXS developmental impairments and adult recovery/plasticity.
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Fragile X Treatment Strategy Emerges from FRAXA Research: IGF-1
New Zealand-based biotech Neuren Pharmaceuticals has announced impressive preclinical results in the Fragile X mouse model with Trofinetide. These compounds are examples of a new class of drugs based on insulin-like growth factors (IGF-1). IGF analogs are currently considered the most promising approach for treating Rett Syndrome, a fatal genetic disorder that affects only girls, and one of the other leading genetic models for the study of autism (along with Fragile X). The surprising news is that FRAXA researchers have found that this treatment strategy works even better in Fragile X knockout mice than in Rett syndrome mice! FRAXA’s strategy is to find and target the critical bottlenecks which block the way to development of treatments.
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Makenzie Cote’s Page
Makenzie is our lovely angel. Life is surely challenging for her and for us as parents raising a child with special needs. She has some developmental delays with a high level of anxiety. She loves going to school every day and she plays many sports like her peers in a league for children with disabilities. We are truly hoping for a cure to increase her quality of life like all the children deserve on this earth. We want her to be happy and proud of herself as much that we are of her. In 2008, our family in Canada started a fundraiser to raise money for the Fragile X research. They started making all kind of crafts and selling them. All the profits are sent to FRAXA in honor of our daughter who was diagnosed at 16 months old with Fragile X syndrome.
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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.
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Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors
FRAXA Awards $50,000 in 2011 and $50,000 in 2010 to Patricia Cogram, PhD for treatment of Fragile X syndrome via Dopamine Enhancers and Glutamate Inhibitors. This project aims to follow up our and others observations that the dopamine receptor is under expressed in the Fragile X syndrome and thus determine the effectiveness of targeted pharmacological treatments in Fragile X syndrome.
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Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice
With a $90,000 grant from FRAXA Research Foundation over two years, Drs. Olivier Manzoni and Daniela Neuhofer researched the relationship between Fragile X syndrome and the areas of the brain that are involved in reward processing, regulation of emotional behavior and emotional memory as well as attention, planning and working memory.
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Development of a Novel GABA(A) a2,3 Agonist in Fragile X Syndrome
FRAXA Research Foundation awards $21,000 in 2013 to Dr. Schaeffer to analyze an investigational new compound that targets the GABA-A receptor. This study has led to a clinical trial of the compound, led by Dr. Craig Erickson at Cincinnati Children’s Hospital. Of the many genes known to be regulated by FMRP, the gamma-aminobutyric acid receptor A (GABA(A)), is gaining attention as a potential target for the treatment of FXS. Mounting evidence suggests decreased expression and functioning of GABA(A) is involved in the pathophysiology of FXS.
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Effects of minocycline on vocal production and auditory processing in a mouse model of Fragile X
With $135,000 in grants from FRAXA Research Foundation over several years, Dr. Khaleel Razak and Dr. Iryna Ethell explored robust biomarkers relevant to the FXS and the efficacy of minocycline treatment.
Read morePhase 2b Clinical Trial of Arbaclofen in Autism Has Disappointing Results
Phase 2b clinical trial of Arbaclofen in Autism Seaside Therapeutics reports the study did not show improvement on the primary endpoint of social withdrawal, but it did demonstrate improvement on the Clinical Global Impression of Severity scale.
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Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene
With $146,000 grant from FRAXA Research Foundation over 2012-2013, Drs. Anita Bhattacharyya and Xinyu Zhao at the University of Wisconsin developed a new mouse model of Fragile X syndrome which will enable testing of gene reactivation and gene therapy approaches to treatment. They transplanted human Fragile X neural cells differentiated from induced pluripotent stem cells into brains of neonatal mice and then testing for FMR1 reactivation. In 2015, The John Merck Fund assumed support for this work with a generous grant of $750,000 to the scientists. Results published.
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Targeting mGluR-LTD to Treat Fragile X Syndrome
With grants from FRAXA Research Foundation from 2000-2010, Dr. Kimberly Huber and her team at the University of Texas conducted several studies on the relationship between mGluR5 and Fragile X syndrome. Dr. Huber made the original discovery of the mGluR Theory of Fragile X when she was a postdoctoral fellow in the lab of Dr. Mark Bear, with her first FRAXA grant in 2000.
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FRAXA Finances – the numbers 2010-2013
FRAXA has funded more than $22 million in research at universities all over the world. However, fundraising has been challenging over the past few years. But the driving force behind FRAXA is parents who are determined to help their children. We’ve kept overhead expenses very low in order to devote as many dollars as possible to Fragile X research.
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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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Small Rho GTPases, a Potential Therapeutic Target for Fragile X Syndrome
With $384,345 in grants from FRAXA Research Foundation, Dr. MariVi Tejada from the University of Houston focused on a particularly promising point of intervention in pathways of brain receptors, and tested several potential therapeutic compounds in an attempt to rescue function in the mouse model of Fragile X.
Read moreEvaluation of CamKII Dependent Regulation of mGluR5-Homer Scaffolds as a Potential Therapeutic for Fragile X Syndrome
With a $90,000 grant from FRAXA Research Foundation, Dr. Kimberly Huber and Dr. Weirui Guo at the University of Texas at Southwestern investigated the roles of Homer and CaMKII in Fragile X syndrome.
Read moreClinical Trials FAQ ← Frequently Asked Questions
Question: How Do Families Decide Which Trial is Best for Them? Answer: Each of the trials has different requirements for joining, so many – if not most – people will only be eligible for one trial after screening. The best way to approach this is to call the clinic contact closest to your area and discuss this with him/her. Age, weight, current medications, behavior, and IQ are all factors.
Read moreDarren’s Smile
Darren’s Smile – This is a very difficult post to write because it is about a son, Darren, who has passed away. Darren’s dad has written a memoir – a beautiful tribute to his son. Darren had Fragile X syndrome. He lived a rich life and was very much loved. Sadly he died because of a choking incident at the group home where he lived. There’s not much written about the risk of choking for people who have Fragile X, but I do wonder if it is a particular risk that we should remember.
Read moreFRAXA Progress and Future Plans
It’s official: Fragile X is now the hottest research topic in all of neuroscience! Just last month, massive publicity attended the publication of Fragile X clinical trial results and major papers by FRAXA’s outstanding translational researchers. Even as news of the first round of Fragile X clinical trials is emerging, Phase III trials (which can lead to actual marketing of medications) are under way and slated to finish around the end of the year. This is exciting, and it is just the tip of the iceberg.
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