FRAXA Updates Archives • Fragile X Research

Making Drug Development Efficient Through Community-Based Collaboration

FRAXA Research Foundation FRAXA Updates • Research Updates October 4, 2021October 14, 2021FRAXA-DVI

FRAXA co-founders Katie Clapp and Mike Tranfaglia, spoke virtually at the 5th Pharma Pricing Reimbursement and Market Access 2021 conference.

In this session, facilitated by Nadia Bodkin, PharmD, MS, from the Rare Advocacy Movement, Katie and Mike were joined by Christopher U. Missling, PhD, President and CEO of Anavex Life Sciences Corp. to discuss the collaboration between FRAXA and Anavex as a case study example to help raise awareness amongst others in the rare disease industry of these types of collaborations between advocacy and industry.

2021 Fragile X Research Grants Funded by FRAXA Research Foundation

FRAXA Research Foundation FRAXA Updates • Research Updates October 1, 2021October 12, 2021astrocytes, autism, CBD, CRISPR, drug repurposing, EEG, FDA, lovastatin, metformin, mRNAs, organoid

Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.

20 Years of Advancing Fragile X Research: Progress Toward a Cure

FRAXA Research Foundation Bear, Mark • FRAXA Updates • Research Updates September 13, 2021September 29, 2021arbaclofen, baclofen, mGluR5

Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.

Brain Organoids, Moving Fragile X Research Forward

Holly Roos FRAXA Updates • Jin, Peng • Kang, Yunhee • Research Updates • Wen, Zhexing September 9, 2021September 9, 2021Alzheimer's, mRNAs, organoid

There are many ways research produces discoveries, and all of them include a process of steps that build on each other. When an exciting new avenue appeared with potential for Fragile X syndrome, FRAXA stepped up to fund it. We now see the results of this grant and are excited to share them with you. The importance of different types of models have been shared and discussed over many years. We are now adding a “brain organoid” model to this group, and the potential behind it is really exciting.

Tetra’s Fragile X Clinical Trial – The Most Successful So Far

FRAXA Research Foundation Berry-Kravis, Elizabeth • Cogram, Patricia • FRAXA Updates • Research Updates September 7, 2021September 29, 2021BPN14770, cyclic AMP, drug tolerance, FRAXA-DVI, NIH, PDE4, Tetra Therapeutics

Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.

Synaptogenix Announced Intention to Launch a Fragile X Clinical Trial with Bryostatin

Holly Roos FRAXA Updates August 6, 2021August 12, 2021Alzheimer's, autism, FDA, FRAXA-DVI

One of the most exciting kinds of work that FRAXA does is following the journey of an experimental new treatment until it is ready for trials in people with Fragile X. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. The recent announcement by Synaptogenix is a great example of how FRAXA funding and use of FRAXA-DVI can accelerate research on Fragile X.

Fragile X Syndrome: In Pursuit of a Cure Webinar

FRAXA Research Foundation FRAXA Updates • Seminar Series July 29, 2021Autifony Therapeutics, autism, cancer, Fragile X Research Foundation of Canada, Healx, Tetra Therapeutics

A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22, 2021 to commemorate World Fragile X Day. This complimentary event is co-organized with WuXi AppTec. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of Fragile X, and to foster collaborations towards effective treatments and ultimately a cure.

2021 FRAXA Awards – Recognizing Perseverance and Dedication

FRAXA Research Foundation Berry-Kravis, Elizabeth • Chattarji, Sumantra • FRAXA Updates • Hagerman, Randi • He, Qionger July 22, 2021September 28, 2021Healx, Zygel

In conjunction with World Fragile X Day 2021, FRAXA Research Foundation is proud to recognize its annual award recipients. This year’s recipients exemplify the perseverance and dedication that has made FRAXA a global leader in Fragile X research for nearly 30 years. We are fortunate to partner with these individuals on research, community support and awareness efforts.

Living with Fragile X Syndrome: ‘He is growing…it’s just really slow’

FRAXA Research Foundation Community • FRAXA Updates July 12, 2021

In recent weeks, USA Today spent days with FRAXA co-founders Dr. Mike Tranfaglia and Katie Clapp, and their son Andy. Andy lives with Fragile X syndrome and is the focus of a segment of USA Today’s occasional series that explores how scientific advances are transforming care for rare diseases.

Memorial Tribute to Dr. Stephen T. Warren

FRAXA Research Foundation FRAXA Updates June 8, 2021June 9, 2021Fragile X Meeting, NIH

Dr. Stephen T. Warren passed away on June 6, 2021. In 1991, Dr. Warren discovered the genetic mutation which causes Fragile X Syndrome and named it FRAXA. Donations can be made in his honor to FRAXA Research Foundation.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

Pivotal Phase 3 Trial of Zygel in Severe Fragile X Possible This Year

Fragile X News Today FRAXA Updates May 17, 2021May 17, 2021CBD, FDA, NIH, Zygel

Zynerba Pharmaceuticals reported receiving advice from the U.S. Food and Drug Administration (FDA) on the design of an upcoming Phase 3 clinical trial meant to confirm previous trial findings supporting Zygel as a cannabidiol treatment in a specific subset of Fragile X syndrome patients. The new trial, called RECONNECT, is expected to launch before October, and will mainly enroll children and adolescents with a complete (100%) methylation of FMR1, the gene mutated in Fragile X.

NPR Feature – A Fragile X Treatment May Be On The Horizon

FRAXA Research Foundation FRAXA Updates May 7, 2021

With a promising new treatment on the horizon, NPR reflects back at the past 10 years, providing a glimpse into both the science and research of Fragile X through the eyes of key researchers, in addition to the lives of this family, their quest for a cure, and what that may look like for their son, Andy.

Holly Roos Joins the FRAXA Team!

FRAXA Research Foundation FRAXA Updates May 5, 2021May 5, 2021education

FRAXA Research Foundation is excited that long time Fragile X advocate and well-known figure within the Fragile X community, Holly Roos, is joining our team as Community Services Director. We are thrilled with the energy and enthusiasm Holly brings to the team.

Tetra Releases Full Results of FRAXA-Funded Clinical Trial of PDE4D Inhibitor

Jennifer Frobish FRAXA Updates • Research Updates April 29, 2021May 3, 2021drug tolerance, FRAXA-DVI, PDE4, Tetra Therapeutics

Today, Tetra Therapeutics published the full results of its PDE4D trial published the full results to their announcement. Now having reviewed the full results, FRAXA can confidently say that the PDE4D drug trial gives hope to patients and families that Fragile X Syndrome is a treatable disorder, and this particular drug can improve intellectual disability.

FRAXA Supports Increased Funding for NICHD

FRAXA Research Foundation Advocacy • FRAXA Updates April 6, 2021April 7, 2021NIH

Within the past month, FRAXA Research Foundation has signed on to join the Friends of of National Institute of Child Health and Human Development (NICHD), asking for an increase government funding to research disorders such as Fragile X syndrome.

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

FRAXA Research Foundation Berry-Kravis, Elizabeth • FRAXA Updates March 10, 2021AMPAkines, BPN14770, lithium, PAK (p21-activated kinase), PDE4, Tetra Therapeutics

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.

The Why and How of FRAXA’s Work to Find a Cure for Fragile X

FRAXA Research Foundation FRAXA Updates February 16, 2021February 16, 2021Talk Fragile X

Thank you Talk Fragile X for having FRAXA’s cofounder Katie Clapp as a guest on your podcast! It was a pleasure to share why FRAXA got started and our motivation for finding effective treatments and ultimately a cure for Fragile X syndrome.

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.

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.

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

Fragile X News Today FRAXA Updates November 23, 2020August 5, 2021Alzheimer's, autism, drug tolerance, FDA, GABA, mGluR5, seizure

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, prepulse inhibition

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).

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).

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.

Talking Step Up for Fragile X

FRAXA Research Foundation FRAXA Updates • Get Involved July 20, 2020February 16, 2021Talk Fragile X

A huge thank you to Talk Fragile X for having FRAXA’s program coordinator Ellen Skala as a guest on your podcast! She got to talk about FRAXA’s upcoming virtual event, Step Up for Fragile X!

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