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.
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.
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.
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.
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.
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.
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.
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.
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.
Using Exosomes to Discover Fragile X Biomarkers
Could a simple blood test show if a Fragile X treatment is working? This team is studying brain-derived exosomes as a new way to track treatment benefits.
mRNA Therapy for Fragile X Syndrome
Dr. Kathryn Whitehead helped develop the science behind the COVID-19 vaccines. Her team adapted this technology to deliver the Fragile X mRNA to brain cells.
Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra
A $200K FRAXA grant enabled a successful Phase 2 trial of a PDE4D inhibitor for adult men with Fragile X, showing strong cognitive gains without side effects or tolerance.
Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Boosting serotonin 1A receptors may reduce excess brain activity in Fragile X. This study will test serotonin-1A–targeting compounds in mice to guide future treatments.
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.
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.
Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain
Enhancing PKCε in early development normalized oxytocin, AMPAR signaling, and adult behavior in Fragile X mice, highlighting PKCε as a promising therapeutic target.
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.
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.
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.
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.
Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome
The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.
FRAXA Supports Increased Funding for NICHD
FRAXA has joined the Friends of NICHD coalition, urging increased government funding for research into Fragile X and related conditions.
Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X
FRAXA-funded studies found Fragile X mice show altered auditory circuit function with delayed startle timing and reduced prepulse inhibition, mirroring human sound sensitivity.
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.