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.
Bruins 50/50 Benefits Fragile X Research
FRAXA volunteers sold 50/50 raffle tickets at the Bruins game, raising $28,040 with the Bruins Foundation, half to FRAXA, half to one lucky fan!
FX-Learn Clinical Trial for Children with Fragile X
Thirteen centers across the US enrolled young children with Fragile X in a large-scale clinical trial of Novartis AFQ056, an mGluR5 blocker for Fragile X which failed in adult human trials.
Over $20,000 Raised For Fragile X Research at Callum Cup V
After a year off for COVID, the Callum Cup returned! Millburn FC’s marquee charity match honors Callum Murphy, son of goalkeeper Andrew.
Cannabinoids as a Treatment for Fragile X Syndrome
This team uses EEG to study sensory hypersensitivity in Fragile X. By testing drugs in mice, they aim to find treatments that calm brain overactivity.
Fundraising Never Tasted So Good
Ice cream for a cause! Lancaster Sweet Shoppe donated proceeds to FRAXA, raising $15,205 in honor of JT. Sweet treats, sweeter impact.
Clinical Trial of Metformin for Fragile X Syndrome
FRAXA-funded open-label trial found that metformin led to increased GABA-mediated cortical inhibition, suggesting metformin modulates core Fragile X pathways.
New Fragile X Clinical Trial Announced by Healx
Healx has received Investigational New Drug (IND) approval from the US Food and Drug Administration (FDA) for a Phase 2a clinical study of HLX-0201 (sulindac, an FDA-approved drug).
Forbes, “Clinical Trials Expand For AI-Designed Drug To Treat Fragile X Syndrome”
British startup Healx has secured FDA approval for a phase 2a clinical trial of an AI-discovered compound that could help manage the symptoms of the genetic disorder Fragile X syndrome. The start of the trial marks another milestone in the use of artificial intelligence to help find new applications for existing drugs by mining patient records and research databases.
Correcting the Brain’s Emotional Memory Center
FRAXA Investigator Dr. Sumatra Chattarji investigated the synaptic basis of deficient conditioned fear and its reversal in Fragile X syndrome rats. Results published.
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.
Making Drug Development Efficient Through Community-Based Collaboration
FRAXA’s partnership with Anavex shows how early collaboration between patient advocates and pharma can accelerate drug development for Fragile X and rare diseases.
Meet Matthew!
Matthew becomes anxious around small household pets, barnyard animals and small children. If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X.
7th Annual 5K Walk for Fragile X in NH Raises Over $3200 For Fragile X Research
The 7th Annual 5K Walk for Fragile X in Derry, NH raised $3,200 for FRAXA. Thank you to everyone who made it a success!
2021 Fragile X Research Grants Funded by FRAXA Research Foundation
Each year, FRAXA funds a diverse portfolio of research. FRAXA Fellowships and Grants are seed funding for the future, the feedstock for the Fragile X treatment development pathway.
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.
Meet Chloe!
Meet #FriendofFRAXA Chloe! She is a bright girl who loves to make a joke and see people smile! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who live with 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.
20 Years of Advancing Fragile X Research: Progress Toward a Cure
MIT Professor Mark Bear traces the discoveries that give us great optimism of finding effective treatments and ultimately a cure for Fragile X syndrome.
Meet Noah!
Meet #FriendofFRAXA Noah! Noah loves learning, playing outside, and riding in Mimi’s car. He’s really excited about starting public school.
Brain Organoids, Moving Fragile X Research Forward
FRAXA-funded scientists at Emory created human brain organoids that reveal Fragile X changes more clearly than mouse models, opening new paths to targeted treatments.
Tetra’s Fragile X Clinical Trial – The Most Successful So Far
Dr. Mark Gurney 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: a phase 2 trial of a PDE4D inhibitor.