EEG Archives • Fragile X Research - FRAXA Research Foundation

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

FRAXA Research Foundation Research Updates • University of Wisconsin • Westmark, Cara March 12, 2020March 12, 2020Alzheimer's, amyloid precursor protein, autism, EEG, metformin, NIH, seizure, sleep, sound

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation 2019 Grants • Cincinnati Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Erickson, Craig • Recruiting • Smith Elizabeth February 13, 2020February 13, 2020AFQ056, EEG, mGluR5, NIH, Novartis

FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.

Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

FRAXA Research Foundation Lovelace, Jonny • Razak, Khaleel • Research Updates • University of California at Riverside February 6, 2020February 7, 2020autism, EEG, FDA, Fragile X Meeting, hypersensitivity, mGluR5, minocycline, NIH, sound

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

Should You Participate in a Fragile X Clinical Trial?

FRAXA Research Foundation Research Updates February 3, 2020February 4, 2020EEG, PDE4, Tetra Therapeutics

A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.

Job Listing: Neurodevelopmental Disorders Postdoctoral Research Fellow

FRAXA Research Foundation Research Resources January 31, 2020autism, EEG, FXTAS

The Kansas Center for Autism Research and Training (K-CART) and Life Span Institute at the University of Kansas currently are seeking one postdoctoral fellow interested in advancing their research skills and progressing towards a career as an independent, externally funded investigator studying autism spectrum (ASD) or related neurodevelopmental disorders (e.g., Fragile X syndrome).

Gene Therapy Translational Studies for Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Beasley, Lindsay • Cincinnati Children's Hospital • Current Research Grants • Erickson, Craig • Genetic Rescue • Gross, Christina • Pedapati, Ernest June 6, 2019September 18, 2019Adeno-associated virus, EEG, NIH

With this $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches using AAV (adeno-associated virus) vectors for treating Fragile X syndrome at Cincinnati Children’s Hospital. Dr. Craig Erickson elaborates about this in this video.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Nelson, Charles A. • Recruiting • Research Updates • Wilkinson, Carol June 5, 2019February 26, 2020autism, EEG, Pierce Family Fragile X Foundation, sound

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 join a study of brain differences using non-invasive EEG.

Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • Clinical • Clinical Trials • Current Research Grants • Lepage, Jean-Francois • Recruiting • University of Sherbrooke, Canada May 24, 2019June 25, 2019EEG, ERK, matrix metalloproteinase, metformin, MMP9

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

FRAXA Research Foundation 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Drug Repurposing • FLENI Foundation • Research Resources • Resources • University of Chile March 1, 2019January 31, 2020Alzheimer's, EEG, FRAXA-DVI, seizure

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

FRAXA Research Foundation 2018 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Scripps Research Institute • Vanderklish, Peter November 6, 2018January 3, 2019EEG, FRAXA-DVI, mRNAs

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018June 20, 2018CBD, EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

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.

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Research Foundation Erickson, Craig • Events Recap • Wilkinson, Carol April 9, 2018December 26, 2019AstraZeneca, AZD7325, EEG, Pierce Family Fragile X Foundation

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference. Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

In Their Own Words: Reports From the International Fragile X Workshop

FRAXA Research Foundation Cogram, Patricia • Contractor, Anis • Events Recap • Kooy, Frank • Lee, Jeannie • McGill University • Moine, Herve • Razak, Khaleel • Research Updates • Smith, Carolyn B. • Sonenberg, Nahum • Todd, Peter • Vanderklish, Peter October 29, 2017December 26, 2019amygdala, autism, bumetanide, DgkK, EEG, ERK, FDA, Fragile X Meeting, GABA, ganaxolone, glutamate, hyperexcitability, hypersensitivity, metformin, mGluR5, minocycline, mRNAs, NIH, Rett syndrome, seizure, sleep, sound

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.

Brain Imbalance Target of Dr. Erickson’s New Clinical Trial

Theodore Coutilish Biomarkers • Cincinnati Children's Hospital • Clinical • Erickson, Craig • Research Updates October 25, 2017December 26, 2019Abilify, AstraZeneca, autism, AZD7325, EEG, GABA, glutamate

According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.

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

FRAXA Research Foundation 2016 Grants • 2017 Grants • Biomarkers • Current Research Grants • Lovelace, Jonny • Razak, Khaleel • Treatment Targets • University of California at Riverside October 3, 2017March 22, 2018EEG, hypersensitivity, matrix metalloproteinase, mGluR5, minocycline, MMP9, sound

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.

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

J. Dora Levin Biomarkers • Boston Children's Hospital • Clinical • Harvard University • Nelson, Charles A. • Research Updates • Wilkinson, Carol August 17, 2017June 20, 2019Autifony Therapeutics, autism, EEG, hypersensitivity, ion channel, Pierce Family Fragile X Foundation, sleep, sound

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Treatment Targets • University of Wisconsin • Westmark, Cara May 23, 2017August 29, 2018Alzheimer's, amyloid precursor protein, autism, EEG, seizure, sleep, sound

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome

Theodore Coutilish Huber, Kimberly • Research Updates • University of Texas at Southwestern September 6, 2016December 26, 2019autism, EEG, hyperexcitability, hypersensitivity, mGluR5, NIH, sound

Ever wonder why your child with Fragile X suddenly screams for no apparent reason or jumps and flaps uncontrollably seemingly for hours? You got it: hyperexcitability. But what exactly causes it? And what can fix it? Kimberly Huber, PhD, is working long and hard in her lab to answer those questions. Dr. Huber, professor, Neuroscience, UT Southwestern Medical Center, is seeking to understand how FMRP regulates connections between brain cells, called synapses, and the function of brain circuits, which are several connected brain cells.