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.
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.
fNIRS to Measure Treatment Response in Young Children with Fragile X
The team tested functional near-infrared spectroscopy (fNIRS). fNIRS uses light sources and sensors on the scalp to build a heat map of the brain in action.
Unveiling Probiotic Potential in Fragile X Syndrome Clinical Trial
First of its kind in Serbia, this clinical trial explores probiotic intervention as a potential treatment avenue for Fragile X syndrome.
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.
Climbing 3 Mountains for Fragile X Research
Michael Leonard climbed three mountains in 24 hours to honor his son, Cole, who lives with Fragile X syndrome. A father’s love knows no limits.
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.
Overcoming the Placebo Effect in Fragile X Clinical Trials
In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. A strong placebo effect can obscure results.
Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account
This article discusses Abilify (aripiprazole) as a “off-label” treatment for people with Fragile X syndrome (FXS). Abilify targets irritability, aggression, self-injury and severe tantrums.
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
Meet Jack!
Meet #FriendofFRAXA Jack! 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.
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.
Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X
FRAXA funded a screen of 2,320 FDA-approved compounds in the Fragile X fly model to identify hits that improve memory and social behavior for advanced testing.
Meet Charlie!
Meet #FriendofFRAXA Charlie! 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.
Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X
Could “caffeine-like” drugs help Fragile X? FRAXA funded research to test adenosine blockers, which may boost thinking and improve symptoms in Fragile X mice.
Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome
This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.
Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments
Drug repurposing leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, with greater success rates and quicker impact.
In Their Own Words: Reports From the International Fragile X Workshop
The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!
Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome
Dr. Frank Kooy and colleagues conducted a double blind crossover trial of ganaxolone in patients with Fragile X with FRAXA funding. Results of this study were mixed.
Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials
Once a neural marker is identified for a particular challenge, it can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.
Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X
FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.
Metformin, Diabetes Drug, Potential Fragile X Treatment
Dr. Nahum Sonenberg’s research showed the diabetes drug metformin can correct key signaling defects in Fragile X, leading to clinical trials of this safe, repurposed therapy.
NIH Investigator Carolyn Beebe Smith, PhD, Looks to Improve Sleep in Fragile X Syndrome
Carolyn Beebe Smith studies sleep disruptions in Fragile X and tests whether improving sleep with existing drugs can reduce symptoms and enhance behavior.
Fragile X Fruit Fly Research Bears Fruit
A FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome.