FRAXA Research Foundation, Author at Fragile X Research

A Look Back at 2022 and Ahead to 2023 Research Prospects

FRAXA Research Foundation Events Recap • Research Updates January 18, 2023January 18, 2023

This holiday season you proved that the adage “actions speak louder than words” is entirely accurate. We sincerely appreciate your gifts in action. FRAXA supporters came out in full force to meet the generous $100,000 challenge offered on Giving Tuesday. By the end of the day, FRAXA had raised $269,744 thanks to matching donations! Amazing! Giving Tuesday was just the start. December ushered in a new $100,000 matching challenge from the Ralph and Ardis James Foundation – which we met! This is the second consecutive year that the Foundation has provided matching funds to accelerate Fragile X research. We are deeply grateful for the continued backing from the Ralph and Ardis James Foundation and for each donation received to advance our work. The Impact of COVID-19 on Fragile X Research We are very happy to report that we are on the rebound from COVID-19. When university labs closed around the

Meet Ryder!

FRAXA Research Foundation #FriendofFRAXA January 6, 2023

Meet #FriendofFRAXA Ryder! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram

FRAXA Research Foundation Berry-Kravis, Elizabeth • Cogram, Patricia • Research Updates December 22, 2022December 22, 2022

In this video we hear from FRAXA Investigators Dr. Patricia Cogram, Professor at the University of Chile, and Dr. Elizabeth Berry-Kravis, Professor at Rush University Medical Center as they reflect on the progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.

Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

FRAXA Research Foundation 2022 Grants • Bergdolt, Lara • Community • Current Research Grants • Dunaevsky, Anna • Treatment Targets • University of Nebraska Medical Center December 20, 2022January 26, 2023astrocytes, hypersensitivity, seizure, sound

Most Fragile X research has focused on one type of brain cells: neurons. But mounting evidence point to problems with astrocytes, star-shaped cells which are vitally important to normal brain function. This team is working to understand how astrocytes are involved in Fragile X and develop treatment approaches that targets astrocytes alone.

Developmental Motor Phenotype in Fragile X Syndrome

FRAXA Research Foundation 2022 Grants • Biomarkers • Clinical • Current Research Grants • Guiotto, Annamaria • Murgia, Alessandra • Sawacha, Zimi • Spolaor, Fabiola • University of Padua December 12, 2022January 26, 2023

One of the lesser known signs of Fragile X is unsteady walking. This is also very easy to evaluate in the clinic: no blood tests are required! With a $100,000 grant from FRAXA Research Foundation, this team will develop objective new outcome measures of gait for future treatment trials and also to see if exercise could improve other symptoms of Fragile X.

$100,000 Donor Matching Challenge From The Robert & Ardis James Foundation

FRAXA Research Foundation Community December 8, 2022December 9, 2022autism

We are thrilled to announce FRAXA Research Foundation’s most significant and unique matching challenge of the year, thanks to the Robert & Ardis James Foundation. This challenge will help us bring top new talent to Fragile X research.

$269,774 Raised for Fragile X Research on #GivingTuesday

FRAXA Research Foundation Events Recap December 2, 2022January 18, 2023

Thank you very much for being a part of yet another fantastic and historic #GivingTuesday! FRAXA raised a total of $269,774 with our matching contributions!! This is incredible. Our work would be impossible without you.

Pharmacological Modulation of Nicotinic Signaling

FRAXA Research Foundation 2022 Grants • Current Research Grants • Garkun, Yury • Icahn School of Medicine at Mount Sinai • Morishita, Hirofumi • Treatment Targets December 1, 2022January 26, 2023EEG

Nicotine — familiar to any smoker — tickles nicotinic acetylcholine receptors in the brain. These receptors are key to important brain functions including learning and memory. This team will explore whether drugs that dampen these receptors can improve cognitive function in Fragile X.

Clinical Trial Results Reported for Phase 3 CONNECT-FX Study of Zygel™

FRAXA Research Foundation Research Updates November 29, 2022CBD, Zygel

Results have just been published from Zynerba Pharmaceuticals’s phase 3 clinical trial of Zygel™ in the Journal of Neurodevelopmental Disorders. In this trial, 212 children and adolescents aged 3 to 17 years were given Zygel or placebo for 12 weeks.

Zynerba Is Now Recruiting for Phase 3 Clinical Trial (RECONNECT) Of Zygel

FRAXA Research Foundation Recruiting • Research Updates • Trials and Studies November 26, 2022February 2, 2023CBD, endocannabinoid, Zygel

Zynerba has announced it is now recruiting subjects for a large-scale Phase 3 clinical trial (RECONNECT) of Zygel at sites across the United States, Australia, the UK and Ireland. They are recruiting children and adolescents with Fragile X syndrome for this randomized, double-blind, placebo-controlled, multinational study…

Sigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome

FRAXA Research Foundation 2022 Grants • Current Research Grants • Feng, Jia • Pouladi, Mahmoud • Treatment Targets • University of British Columbia November 22, 2022January 26, 2023

Dr. Pouladi’s team is exploring a treatment of Fragile X via the sigma-1 receptor. Drugs that boost activity at sigma receptors tend to calm down overactive neurons. They are also powerful anti-inflammatory drugs.

Support the Stevenson Family Campaign

FRAXA Research Foundation Fundraising Campaigns November 21, 2022December 5, 2022Alzheimer's, autism, drug repurposing, mRNAs

As we tentatively and joyfully begin to emerge from the recent health crisis, it’s awe-inspiring to reflect on how we’ve all benefited from the world’s top scientists coming together to develop vaccines and treatments for COVID-19. That same passion for innovative science motivates us now more than ever to support brain research that could dramatically improve the lives of those coping with Fragile X syndrome.

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Berry-Kravis, Elizabeth • Clinical • Has Results • Research Grant Results • Rush University Medical Center • Trials and Studies November 20, 2022January 26, 2023Alzheimer's, BPN14770, cyclic AMP, drug tolerance, FDA, FRAXA-DVI, NIH, PDE4, Pierce Family Fragile X Foundation, sound, Tetra Therapeutics

With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.

Donate to the Clark Family Campaign

FRAXA Research Foundation Fundraising Campaigns November 9, 2022November 15, 2022

Another year has passed presenting us, and Lucas, with new challenges. People with Fragile X syndrome have an incredibly hard time with any sort of disruption to their daily schedule. Yes, we all do, but for these folks it feels more like an anguishing life event rather than a simple change in routine.

Versatile Drug Screening Platform for Fragile X Syndrome

FRAXA Research Foundation 2022 Grants • Current Research Grants • Drug Repurposing • Kooy, Frank • University of Antwerp, Belgium • van der Lei, Mathijs November 2, 2022January 26, 2023drug combinations

Many experts believe that combinations of drugs may be needed to best treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project — a collaboration between a top university research team and an innovative AI startup both based in Belgium — tackles this challenge.

Human FMR1 Isoform-Specific Regulation of Translation and Behavior

FRAXA Research Foundation 2022 Grants • Current Research Grants • Disease Mechanisms • Reynolds, Kathryn • Tufts University School of Medicine • Yang, Yongjie October 19, 2022January 26, 2023mRNAs

Fragile X syndrome is caused by lack of one protein, FMRP. But this one protein occurs in different variations. Do the different versions of FMRP have different roles in the brain, and if so, is there one that’s key? If we could replace FMRP to treat Fragile X syndrome, which version would we use?

Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

FRAXA Research Foundation Berry-Kravis, Elizabeth • Gurney Mark • Recruiting • Research Updates October 17, 2022February 2, 2023Alzheimer's, autism, BPN14770, FDA, PDE4, Tetra Therapeutics

Tetra Therapeutics has launched large scale clinical trials of their phosphodiesterase (PDE) inhibitor for males ages 12-45 with Fragile X syndrome. FRAXA Research Foundation’s basic and translational research pointed the way to phosphodiesterase inhibitors to treat Fragile X many years ago.

Meet Conor!

FRAXA Research Foundation #FriendofFRAXA October 14, 2022October 20, 2022

Meet #FriendofFRAXA Conor! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Meet Tobias!

FRAXA Research Foundation #FriendofFRAXA September 30, 2022October 14, 2022

Meet #FriendofFRAXA Tobias! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Fiona’s Bat Mitzvah Project

FRAXA Research Foundation Fundraising Campaigns September 24, 2022October 17, 2022autism

October 1, 2022 is my Bat Mitzvah. For my mitzvah project I chose to fundraise for FRAXA. FRAXA is an organization that researches for effective treatments and ultimately a cure for Fragile X syndrome. The reason it is so close to my heart is because my oldest brother Colby has Fragile X. Although he is 20 years old, some of the struggles he experiences with Fragile X include sharing his thoughts and communicating his feelings.

Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain

FRAXA Research Foundation 2022 Grants • Bardoni, Barbara • CNRS Valbonne • Current Research Grants • Disease Mechanisms • Tempio, Alessandra September 22, 2022January 26, 2023dopamine, GABA, glutamate, hyperexcitability, seizure, serotonin

The brain’s balance is maintained by two types of neurons: those that excite and those that inhibit activity. Like yin and yang, this balance is essential. This team has found fewer than normal inhibitory cells in the brains of Fragile X mice. They are now working to pinpoint this abnormality and find ways to restore the normal balance and function.

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • 2022 Grants • Current Research Grants • Genetic Rescue • Harvard University • Lee, Hungoo • Lee, Jeannie • Massachusetts General Hospital • Treatment Targets September 20, 2022January 26, 2023demethylation, iPS, Pierce Family Fragile X Foundation

FRAXA has awarded $140,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1.

Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

FRAXA Research Foundation 2022 Grants • Canal, Clinton E. • Current Research Grants • Mercer University • Saraf, Tanishka • Treatment Targets August 30, 2022January 26, 2023drug repurposing, hyperexcitability, NIH, seizure, serotonin

Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.

FRAXA Volunteer Participates in Peer Reviewed Medical Research Program for the Department of Defense

FRAXA Research Foundation Advocacy • Research Updates August 26, 2022DoD, PRMRP

FRAXA nominated advocate, Jennifer Frobish, recently evaluated research applications submitted to the Peer Reviewed Medical Research Program (PRMRP) of the Congressionally Directed Medical Research Programs (CDMRP).

Families Come from Multiple States for Flatbread Pizza Fundraiser

FRAXA Research Foundation Events Recap August 19, 2022August 19, 2022

The world seems less scary. We were invited to the pizza party where we met Katie and so many other families. We were welcomed like family! It was such a good feeling to not be alone and have people understand your daily struggles and want change, like you, for Fragile X families.

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