FMRP Regulatory Role in Human Hippocampal Development and Therapeutic Interventions in Fragile X
Fragile X syndrome hippocampal organoids show neuron–glia imbalance. This team will map disrupted gene networks and test PDE inhibitors to restore brain function.
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.
Support the Stevenson Family Campaign
The march of time renews the commitment we made to a special needs community 25 years ago. We vowed to dream big and never give up until there were effective treatments available and eventually a cure for Fragile X syndrome, the most commonly inherited cause of intellectual disabilities and autism.
Two-Med Combo Normalized Behavior, Improved Memory in Fragile X Mice
Treating Fragile X might require a combination of drugs. FRAXA-DVI tested two investigational drugs in Fragile X mice. Together ibudilast and gaboxadol rescued a wide array of symptoms.
Pioneering Community-Based Drug Development for Fragile X Syndrome
Discover how FRAXA leverages Community-Based Drug Development to create impactful therapies for Fragile X syndrome. Join us as we reshape the future of rare disease treatment.
Coming Together for Rare Disease Day 2023
Today we mark Rare Disease Day. FRAXA is committed to advancing research on Fragile X, one of the most common rare diseases worldwide.
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.
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.
Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome
Depression is common in Fragile X, but current antidepressants need FMRP to work. Researchers will screen FDA-approved drugs to find effective options for FXS.
How FRAXA Prioritizes Research, Explained
Dr. Mike Tranfaglia explains how FRAXA prioritizes research and the importance of looking at research from multiple angles. “It’s not either-or. It’s not we have a definitive treatment or we have a new drug treatment or we have a repurposing treatment. We can have all of those things, mixed or matched, in a personalized medicine kind of way and I think that’s what we’re headed for.”
What FRAXA Is Excited about in the Upcoming Fragile X Research Grants, Explained
Dr. Mike Tranfaglia shares what FRAXA is excited about as we work through reviewing all of the submitted Fragile X research grant applications. We find it especially exciting that so many new clinical trials are starting right now, as our major emphasis is getting the drugs and other treatment strategies that we have tested in the Fragile X mouse model to patients in clinical trials.
New Fragile X Clinical Trial Announced by Healx
Healx’s AI-driven approach makes finding the right combination therapies more efficient, cost-effective, and rapidly ready for testing at FRAXA-DVI. It was this process that has brought Healx to its recent announcement sharing that it has received Investigational New Drug (IND) approval from the US Food and Drug Administration (FDA) for the Phase 2a clinical study of HLX-0201 (sulindac, an FDA-approved drug).
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.
2021 Fragile X Research Grants Funded by FRAXA Research Foundation
Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.
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.
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.
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.
Healx Drug Repurposing Programme for Fragile X Syndrome
David Brown, MD, PhD, Ivan Angulo-Herrera, PhD and Anthony Hall of Healx present about the Drug Repurposing Programme for Fragile X syndrome.
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.
Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account
The aim of this article is to discuss the use of Abilify (generic name: aripiprazole) as a treatment for people with Fragile X syndrome (FXS). As an “off-label” prescription, Abilify targets behaviors such as irritability, aggression, self-injury and severe tantrums.
Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases
This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.
Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast
In this double-bill episode of The Genetics Podcast, Dr. Patrick Short talks to two key rare disease researchers in the field: Dr. Bruce Bloom, CCO of Healx, and Dr. Mike Tranfaglia, CSO of FRAXA. Both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing to aid in finding effective treatments for Fragile X.
Considering Available Drugs for Fragile X: My Favorite Combination (So Far)
Which of the available drugs are best for managing fragile X syndrome? Most drugs have “off-target” effects which can have key advantages in some cases.