Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)
This study from the Wilkinson Lab at Boston Children’s Hospital is investigating how differences in brain activity affect learning, language and behavior in children with Fragile X syndrome, Down syndrome, and Autism Spectrum Disorder. One of the goals is to find brain markers that predict cognitive, language, and behavioral difficulties in these groups. Another goal is to better understand the differences in brain activity between young children with and without Fragile X and Down Syndrome, and whether these differences are similar in children with Autism Spectrum Disorder.
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.
Meet Archie!
Meet #FriendofFRAXA Archie! 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.
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.
Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome
FRAXA funded the LovaMiX trial of lovastatin + minocycline for Fragile X. 2022 results show safety and support continued study of this dual-target treatment approach.
GABA-A Receptor in Fragile X Syndrome
Published results from Dr. Frank Kooy reveal how GABAA receptor changes may hold the key to treating Fragile X syndrome.
Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS
This team is designing tiny “peptidomimetic” drugs that mimic FMRP’s function to rebalance protein production in the brain, aiming to treat Fragile X at its source.
Purposeful and FRAXA Partnership Leads to Clinical Trial
AI and FRAXA-DVI identified a drug + supplement combo that reversed all Fragile X symptoms in mice. A clinical trial tested this in adults with Fragile X.
Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X
This team previously discovered runaway nonsense-mediated mRNA decay (NMD) in cells of Fragile X patients. They will now test drugs to reduce NMD.
Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models
This team found a key mechanism by which FMRP controls brain connections. They’ll test existing drugs that target this pathway to restore learning and memory in Fragile X.
Contribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome
Why are some with Fragile X always hungry or overweight, yet rarely diabetic? This team is studying metabolism and testing treatments like metformin and diet.
Promising Results of Preclinical Study of ANAVEX®2-73
We are excited to share that Anavex Life Sciences announced today that preclinical data of the ANAVEX®2-73 (blarcamesine) study in Fragile X syndrome were published in the peer-reviewed journal, Scientific Reports.
Synaptogenix Announced Intention to Launch a Fragile X Clinical Trial with Bryostatin
Bryostatin research has advanced from mouse models to human trials. Synaptogenix and Nemours make plans to test this potential treatment in Fragile X clinical trials.
Link Between Lipid Profile, eCBome System and Gut Microbiome in Fragile X Syndrome
Why does obesity challenge so many people with Fragile X? Dr. Caku’s team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut.
Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Model
Microglia are excessively activated in Fragile X models. The team will investigate the mechanisms and attempt to correct this using drugs.
The Role of Astrocyte BMP Signaling in Fragile X Syndrome
Researchers found a pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug.
Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells
Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.
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.
Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)
This study tested CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment.
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.
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.
Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome
This Stanford University team assessed combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome. Results published.
Parkinson’s Therapy May Hold Promise for Fragile X
A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model.
"One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.
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.