#teamwally shares a joyful outdoor moment supporting Fragile X awareness as the kids explore a steering wheel together

Cognitive Rigidity: a Hallmark of Fragile X and Autism

Cognitive rigidity shapes daily life in Fragile X, driving anxiety and repetitive behaviors. Learn its impact on treatment and independence.

Read More »

Metabolic and Mitochondrial Crosstalk in Insulin and cAMP Pathways in Fragile X Syndrome

Fragile X syndrome research explores insulin and cAMP pathway crosstalk, mapping brain metabolism to guide treatment strategies.

Read More »

FRAXA Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.

Read More »

Urgent Action Needed: Help Secure NIH Funding for Fragile X Research

NIH funding delays threaten Fragile X research, putting critical studies and future treatments at risk. Help us urge Congress and the NIH to act now.

Read More »

BK Channel Openers: A New Hope for Fragile X Treatment – Insights from Kaerus Bioscience CEO Robert Ring

Kaerus Bioscience’s BK channel openers for Fragile X syndrome are advancing through Phase 1 trials, offering hope for new treatments with FRAXA’s continued support.

Read More »

Identification of the Proteome of Active and Silenced FMR1 Alleles in Human Stem Cells

This project aims to uncover which proteins keep the Fragile X gene silenced. By identifying them, the team hopes to find new ways to switch the FMR1 gene back on.

Read More »

Fragile X Treatment Target Emerges from Neurolixis & FRAXA Collaboration

FRAXA pharma partner Neurolixis has filed patents for treatment of Fragile X with a highly selective new drug, NLX-101, which targets the serotonin receptor 5-HT1A.

Read More »

ASOs and Fragile X: Addressing the Most Asked Questions

Explore the potential of ASOs in treating Fragile X syndrome & FXTAS. Dive into a comprehensive Q&A addressing key questions and breakthrough findings.

Read More »
2023 Fragile X Research Banbury Meeting (1)

Breakthrough Discoveries in Fragile X Research: Insights from Special Banbury Meeting on Curative Therapies

Explore the latest breakthroughs in Fragile X research unveiled at the recent Banbury Meeting. Discover novel strategies, from gene therapy to protein replacement, that bring hope for curative therapies.

Read More »

Using Exosomes to Discover Fragile X Biomarkers

How can a blood test give an accurate picture of brain activity? The team will use exosomes – which travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.

Read More »

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

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.

Read More »

Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

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.

Read More »

FMR1 Renamed to Fragile X Messenger Ribonucleoprotein 1

The efforts of the European Fragile X Network (EFXN) have led to the renaming of the FMR1 gene to “Fragile X Messenger Ribonucleoprotein 1” gene and the Fragile X protein, FMRP, to “Fragile X Messenger Ribonucleoprotein.” Families around the globe are celebrating the news as a significant step forward for acceptance and the removal of a term that evokes many negative feelings.

Read More »

mRNA Therapy for Fragile X Syndrome

Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.

Read More »

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

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital is recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

Read More »
Banerjee team at College of Staten Island

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.

Read More »

FX-Learn Clinical Trial for Children with Fragile X

Thirteen centers across the US enrolled children with Fragile X in a large-scale clinical trial of Novartis AFQ056. Dr. Elizabeth Berry-Kravis and colleagues aim to show that this targeted treatment — an mGluR5 blocker for Fragile X which failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.

Read More »

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

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.

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

Memorial Tribute to Dr. Stephen T. Warren

Dr. Stephen T. Warren, who discovered the Fragile X gene (FRAXA) in 1991, passed away June 6, 2021. Donations in his honor support FRAXA Research.

Read More »

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

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.

Read More »

Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome

Studies have shown that the function of inhibitory networks is disturbed in Fragile X. This abnormality is not well understood but appears to be secondary to abnormalities in metabotropic glutamate and endocannabinoid systems. With a $90,000 grant from FRAXA, Dr. Molly Huntsman’s team examined how these networks interact and how inhibitory deficits can best be remedied.

Read More »

FRAXA Supports Increased Funding for NICHD

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.

Read More »
Elizabeth MCullough and Achim Klug

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

With a $90,000 grant from FRAXA, Dr. McCullagh and Dr. Achem Klug at the University of Colorado investigated whether auditory neural circuits are altered in Fragile X mice. They saw minor differences in these mice compared to B6 (control) mice in several measures of auditory acuity. Fmr1 mice had increased latency to the startle response for almost all conditions compared to B6 mice, suggesting altered timing to acoustic cues. These experiments show that, consistent with patient reports and anatomical/physiological data, the auditory system is altered in a mouse model of FXS, though with some potential compensation leading to a subtle behavioral impact.

Read More »

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

Read More »

Categories

FRAXA Funded Research

Current Research Grants (37)