Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

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Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in Fragile X mice.  

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Metformin, Diabetes Drug, Potential Fragile X Treatment

Metformin, Diabetes Drug, Potential Fragile X Treatment

“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.

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Fragile X Syndrome Treatment Target: MMP-9

Fragile X Syndrome Treatment Target: MMP-9
A major article from the Ethell lab at UC Riverside has shown the therapeutic potential of drugs that inhibit the enzyme MMP-9. A nice lay description of the new paper is here and the abstract of the article is here.  Dr. Ethell was awarded FRAXA Research Foundation funding from 2008-2011 and 2012-present. This latest work shows that human Fragile X tissues have elevated levels of the extracellular enzyme MMP-9, as well as an increase in the active fraction of that protein (like most enzymes, MMP-9 can exist in an inactive form which can be switched on rapidly; this kind of regulation is important in most biological pathways.) The Ethell lab also showed that genetic reduction of MMP-9 rescues most Fragile X phenotypes in the mouse model. Previous work had shown that inhibition of MMP-9 with minocycline also had similar effects, but minocycline has many different actions. These experiments demonstrate conclusively that MMP-9 inhibition is the activeRead more

Role of Matrix Metalloproteinases in Fragile X

Role of Matrix Metalloproteinases 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.

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FRAXA Grant to Carlos Paribello, PhD — Fragile X Research Foundation of Canada

FRAXA Awards: $40,000 in 2008 This trial is based on results of another FRAXA-funded study of minocyline in mice, by the Ethell lab at UC-Riverside. Add-On Pilot Trial of Minocycline in Fragile X Report: 12/1/2008 Researchers funded by FRAXA have discovered that a drug called minocycline can reverse structural abnormalities seen in the brain cells of Fragile X mice. Minocycline belongs to a group of antibiotics called synthetic tetracyclines, and it has been used in people for more than fifty years to treat Lyme disease, acne, and other skin infections. With a $40,000 grant from FRAXA, Dr. Carlo Paribello and his team at the Surrey Place Centre Fragile X clinic in Toronto, Ontario, are running an open label trial to see if minocycline can improve learning and reduce anxiety and behavioral problems in people with Fragile X. Twenty participants between the ages of 13 and 35 years take minocycline for

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