Somatosensory Processing as a Therapeutic Target for Fragile X Syndrome
FRAXA-funded researchers in Edinburgh assessed a noninvasive touch test that could be used for clinical trials in Fragile X syndrome.
Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids
Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.
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.
Innovative Breakthrough in Fragile X Treatment: The Promise of Antisense Oligonucleotide (ASO) Therapy
This changes everything! FRAXA funded research introduces Antisense Oligonucleotide (ASO) Therapy, redefining Fragile X syndrome treatment and understanding.
Unraveling Fragile X Syndrome: New Insights into FMR1 Gene Reactivation
Discover groundbreaking methods for reactivating the FMR1 gene in Fragile X syndrome. Dive into the transformational research and the implications of self-healing at a cellular level.
Allos Pharma Advances Phase 3 Clinical Trial Design for Potential Fragile X Syndrome Treatment, Arbaclofen
Allos Pharma is planning a pivotal Phase 3 trial of arbaclofen for individuals with Fragile X syndrome. Arbaclofen is closely related to the available drug baclofen.
Modeling Fragile X Syndrome using Multi-Region Human Brain Organoids
The team is developing new, more accurate Fragile X brain organoids to help researchers study neural circuit problems and accelerate testing of future treatments.
SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome
This $100,000 FRAXA grant will fuel the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug.
Fragile X Syndrome and Cancer Research: Unexpected Links and Opportunities for Collaboration
Discover unexpected links between Fragile X Syndrome and cancer. Studies show people with Fragile X have much lower cancer rates. Explore new opportunities for collaboration in this promising research.
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.
FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize
Dr. Maquat discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. With funding from FRAXA she is tackling Fragile X syndrome.
Targeting Cognitive Function in Fragile X Syndrome
Why do males and females experience Fragile X differently? This team is studying brain signaling pathways to uncover sex-based differences and guide treatments.
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.
10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram
FRAXA Investigators Dr. Patricia Cogram and Dr. Elizabeth Berry-Kravis reflect on progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.
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.
Sigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome
Researchers will test sigma-1 receptor drugs—like fluvoxamine, which activates this pathway—to see if they can correct Fragile X brain cell abnormalities.
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.
Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target
With this FRAXA grant, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.
Versatile Drug Screening Platform for Fragile X Syndrome
Combinations of drugs may be needed to treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project tackles this challenge.
Human FMR1 Isoform-Specific Regulation of Translation and Behavior
FMRP has multiple forms, and this team will study which isoforms are most important for brain development. This is key for future FMRP replacement therapies.
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.
Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model
FRAXA-supported work has identified DgkK as a critical enzyme lost in Fragile X. Drugs that raise DgkK levels may correct brain signaling and improve symptoms.
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.
Transcriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome
This team is defining Fragile X “molecular signatures” to use as biomarkers. They’ll test CBD and other drugs in mice and compare findings to human brain data.