News & Updates • Fragile X Research - FRAXA Research Foundation

Starting 2021 Filled with Gratitude and Determination!

FRAXA Research Foundation FRAXA Updates January 14, 2021January 14, 2021

2020 was a year we will never forget. Because of this incredible community and dedicated supporters, we were able to pull through the most difficult year most of us have experienced.

Fragile X Research Funding of $1 Million Offered for 2021

FRAXA Research Foundation FRAXA Updates December 29, 2020

FRAXA plans to fund $1 million for a generous number of Fragile X research grants and fellowships in 2021. Our mission is to find specific treatments and ultimately a cure for Fragile X syndrome. We aim to bring practical treatment into current medical practice as quickly as possible; we prioritize projects that have a clear practical application and the results of which will be shared in a timely fashion.

Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

FRAXA Seminar Series This virtual seminar series addresses a wide range of current topics in Fragile X research. Hosted by FRAXA and organized by Michael Tranfaglia, MD and Patricia Cogram, PhD, sessions feature outstanding speakers from universities and the biotech and pharmaceutical industries. Presentation Summary Craig Erickson - Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview Ernest Pedapati - Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans Devin Binder - Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome Kimberly Huber - FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes About the SpeakersCraig A. Erickson, MD Professor of Psychiatry at Cincinnati Children's Hospital and the University of Cincinnati College of Medicine Craig Erickson is the director of the Cincinnati Fragile X Research and Treatment Center. Craig has devoted his career

Dr. Mark Bear 1:1 with FRAXA – Developing Arbaclofen for Fragile X

Eric Welin 1:1 with FRAXA • Bear, Mark • Research Updates December 9, 2020arbaclofen

Seven years ago, arbaclofen (STX209) was pulled from development, disappointing families around the US. Now MIT professor and FRAXA Investigator Dr. Mark Bear has founded Allos Pharma to bring it back. Dr. Bear sat down with FRAXA co-founder Katie Clapp to share the story and next steps.

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

FRAXA Research Foundation Jin, Peng • Seminar Series • Wen, Zhexing December 8, 2020December 8, 2020autism, cancer, DOD, epigenetics, FXPOI, FXTAS, mRNAs, NIH, organoid

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

Recruiting: Facematch Fragile X Project at University of Newcastle

FRAXA Research Foundation Recruiting December 7, 2020December 7, 2020

The FaceMatch project is using computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer. As we know, the time prior to diagnosis is one of the toughest periods in the journey of our children and we hope that the inclusion of families such as yours with a known diagnosis may help those families who are still searching for a diagnosis.

Sincere Gratitude for a Successful #GivingTuesday 2020

FRAXA Research Foundation Events Recap • FRAXA Updates December 2, 2020

From the bottom of our hearts, thank you. In a year filled with so much uncertainty, you truly rose to the occasion. From creating Facebook fundraisers to sharing why you give back, each one of you made a difference. With the help of our dedicated supporters and gifts from over 150 amazing donors, FRAXA Research Foundation raised $70,047 on #GivingTuesday.

The FRAXA Biotech Games in 2020

Elle Skala Events Recap • FRAXA Updates November 27, 2020November 27, 2020

As many of you might have guessed, the 2020 FRAXA Biotech Games had to shift this year to a virtual event. However, the commitment was still there. Throughout the month of September, 39 teams of 4 took time out of their busy schedules to come together every Thursday to connect and show their support for Fragile X research.

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

Fragile X News Today FRAXA Updates November 23, 2020Alzheimer's, autism, FDA, GABA, mGluR5

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.

Arbaclofen Returns After 7 Years!

FRAXA Research Foundation Bear, Mark • FRAXA Updates • Research Updates November 19, 2020December 9, 2020arbaclofen, autism, baclofen, GABA, hyperexcitability

Allos Pharma Inc, a late-stage pharmaceutical company developing therapeutics for neurodevelopmental disorders, has announced the exclusive license rights on IP and documentation for arbaclofen in fragile X syndrome (FXS).

Department of Defense Medical Research Funding Guided by FRAXA Consumer Reviewers

FRAXA Research Foundation Advocacy November 17, 2020DOD, PRMRP

FRAXA nominated three individuals to join in the program this year. Over the past several weeks, Katie Clapp, Ellen Skala, and Jennifer Frobish participated in the evaluation of research applications submitted to the PRMRP. As consumer reviewers, they were full voting members (along with prominent scientists) at meetings to help determine how the $360 million appropriated by Congress for Fiscal Year 2020 will be spent on PRMRP research.

Recruiting: Behavior and Cognition in Fragile X Adults Research Study at Stanford University

FRAXA Research Foundation Recruiting • Research Updates November 6, 2020November 10, 2020MRI

Researchers at Stanford University are conducting a clinical research study to learn about behavior & cognition in adults with intellectual & developmental disabilities. Information learned from this research can ultimately contribute to the development of treatment and intervention.

Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

FRAXA Research Foundation Berry-Kravis, Elizabeth • Gurney Mark • Has Results • Press Release • Research Updates November 2, 2020December 21, 2020Alzheimer's, autism, BPN14770, FDA, mGluR5, NIH, PDE4, Tetra Therapeutics

Today, Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome, press release below. The results do not depend on carving out a subset of patients or post hoc analysis.

University of Kansas BRAIN Lab Seeking Postdoctoral Fellow

FRAXA Research Foundation Research Resources October 30, 2020October 30, 2020autism, EEG, FXTAS

The Life Span Institute at the University of Kansas currently is 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, Down syndrome).

Overcoming the Placebo Effect in Fragile X Clinical Trials

Caitlyn Dent, RN, BSN Research Updates October 28, 2020October 28, 2020EEG, fNIRS

In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. Participants do not know whether they are taking medicine or placebo. In theory, this can allow researchers to rule out the placebo effect by comparing outcomes among the two groups. But, per Wexler (2020) “having a strong placebo effect can obscure any real effect of the therapy being investigated”.

Zygel May Improve Behavior in Children With Severe Fragile X, Trial Data Suggest

Fragile X News Today Research Updates October 22, 2020October 22, 2020CBD, FDA

Zynerba presented clinical trial results for Zygel at a recent neurology conference. Zygel, an experimental cannabidiol (CBD) gel, may reduce behavioral abnormalities in children with Fragile X syndrome who have more severe disease.

Use of EEG as a Biomarker for Diagnosis and Outcomes in Neurodevelopmental Disorders

FRAXA Research Foundation Nelson, Charles A. • Seminar Series • Wilkinson, Carol October 21, 2020autism, EEG, Rett syndrome

A series webinars focused on current topics in Fragile X research featuring Charles A. Nelson III, PhD, Professor at Harvard Medical School and Carol Wilkinson, MD, PhD, Instructor at Boston Children’s Hospital.

Centers for Collaborative Research in Fragile X Receive $25 Million Over Next 5 Years

Katie Clapp Advocacy • FRAXA Updates October 6, 2020October 6, 2020NIH

National Institutes of Health (NIH) has announced funding for three Centers for Collaborative Research in Fragile X. The centers will receive $25 million over the next 5 years. Funding for the centers comes from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Mental Health (NIMH), and the National Institute of Neurological Disorders and Stroke (NINDS).

Healx Drug Repurposing Programme for Fragile X Syndrome

FRAXA Research Foundation Research Updates • Seminar Series October 1, 2020October 1, 2020autism, EEG, Healx, Roche

David Brown, MD, PhD, Ivan Angulo-Herrera, PhD and Anthony Hall of Healx present about the Drug Repurposing Programme for Fragile X syndrome.

Yale Researcher Dr. Elizabeth Jonas 1:1 with FRAXA

FRAXA Research Foundation 1:1 with FRAXA • Jonas, Elizabeth • Research Updates September 18, 2020September 18, 2020

We talk with Dr. Elizabeth Jonas, Professor of Internal Medicine and Neurology at Yale School of Medicine, about her new research suggesting that leaky mitochondria cause some symptoms of Fragile X syndrome. Leaky membranes may also be involved in Parkinson’s Disease and other diseases.

Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

FRAXA Research Foundation 2019 Grants • 2020 Grants • Current Research Grants • Gibson, Jay • Holley, Andrew • University of Texas at Southwestern September 2, 2020drug tolerance, EEG, glutamate, hyperexcitability, hypersensitivity, mGluR5, seizure, sound

FRAXA Research Foundation has awarded $90,000 over 2019-2021 to principal investigator Dr. Jay Gibson and postdoctoral fellow Dr. Andrew Holley at the University of Texas Southwestern Medical Center. They are investigating circuit mechanisms for auditory system dysfunction and drug tolerance in the Fragile X mouse model.

Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

FRAXA Research Foundation Binder, Devin • Razak, Khaleel • Research Updates • Seminar Series August 27, 2020August 27, 2020astrocytes, DOD, EEG, glutamate, Healx, hypersensitivity, matrix metalloproteinase, NIH, seizure, sound

In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.

A Tribute to Doris Buffett, Philanthropist

FRAXA Research Foundation FRAXA Updates August 19, 2020September 1, 2020NIH

We are sad to report that Doris Buffett passed away at the grand age of 92. Doris Buffett donated more than $100 million in her own money to help people who need it. Sister of billionaire Warren Buffett, Doris called FRAXA “The Gold Standard” in grass roots charities.

Fragile X Community Launches #TealTakeover

FRAXA Research Foundation Community • Events Recap August 5, 2020August 6, 2020Patrick's PALS

From a few Zoom Virtual Gatherings an idea was born to do something really special during July to commemorate Fragile X Awareness Day. We would harness the power of the internet to raise awareness with three unique events – the #TealTakeover.

Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account

Caitlyn Dent, RN, BSN Research Updates July 29, 2020August 5, 2020Abilify, aripiprazole, autism, dopamine, FDA, hypersensitivity, NIH, serotonin, sleep

The aim of this article is to discuss the use of Abilify (generic name: aripiprazole) as a treatment for people with Fragile X syndrome (FXS). As an “off-label” prescription, Abilify targets behaviors such as irritability, aggression, self-injury and severe tantrums.

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