Advanced Preclinical Testing of NKCC1 Inhibitors Supporting Phase 2 Trials in Fragile X
The project evaluates a next-generation NKCC1 inhibitor, studying its safety and effects on brain signaling to determine its potential to progress into Phase 2 clinical trials.
Fragile X Research Q&A: Dr. Berry-Kravis on the RECONNECT Trial
Fragile X Research Q&A with Dr. Berry-Kravis on RECONNECT results, placebo effects, outcome measures, methylation, and research directions for families.
Sex Differences and the Role of Estrogen Receptors in Fragile X
Fragile X syndrome researchers are studying how estrogen receptors shape brain activity and may explain why males and females experience symptoms differently.
Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome
Drs. Emily Osterweil and Stephanie Barnes investigated NMDA receptor signaling and how rebalancing protein synthesis could correct Fragile X brain abnormalities.
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.
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.
Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome
Join Dr. Tsai and Dr. Kumar on a journey into novel treatments for Fragile X syndrome. Activating mGluR7 could be a game-changer, opening up uncharted therapeutic territory.
Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome
This team studied how faulty calcium signaling in astrocytes contributes to sensory hypersensitivity in Fragile X, aiming to find new astrocyte-targeted treatments.
Slack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice
FRAXA research grant enabled Yale researchers to investigate whether Slack potassium channel inhibitors can normalize behaviors in FMR1 knockout mice.
Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome
This team is testing ERK inhibitors — drugs that may calm overactive brain signaling in Fragile X. Early results in mice show strong benefits with minimal side effects.
Targeting Serotonin 1a Receptors to Reverse Neurobehavioral Phenotypes
Neurolixis’ new drug targets serotonin 1A receptors, showing promise in preclinical studies for Fragile X syndrome, funded by a FRAXA grant for future clinical trials.
Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain
The brain’s balance is maintained by two types of neurons: excitatory and inhibitory. This team has found fewer than normal inhibitory cells in Fragile X mice.
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.
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.
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.
Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach
Presentations by Craig Erickson, Ernest Pedapati, Devin Binder, and Kimberly Huber about their research on Fragile X as part of their NIH Center of Excellence.
Bryostatin-1 in Long-term Use Seen to Arrest Fragile X Symptoms in Mouse Model
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.
Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse
A $90K FRAXA grant will help uncover why Fragile X causes sound hypersensitivity and test ways to correct brain circuit dysfunction linked to auditory overload.
Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse
In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.
Scientists Find a New Way to Reverse Symptoms of Fragile X
FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.
Ketogenic Diet Eases Symptoms in Fragile X Male Mice
Westmark Lab is studying sleep patterns in Fragile X mice, working with UW-Madison to develop tools that speed EEG data analysis
Less Active Immune System Evident in Fragile X Patients, Study Suggests
People with Fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications of immune dysregulation in Fragile X syndrome,” was published in the European Journal of Neurology.
Potassium Channel Modulators to Treat Fragile X
FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.
Ganaxolone Fragile X Clinical Trial Showed Disappointing Results
Ganaxolone, an experimental drug from Marinus Pharmaceuticals which targets GABA receptors, did not show promise for Fragile X syndrome in a clinical trial.