RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…
One year of treatment with approved oral diabetes medicine, metformin, helped to improve the cognitive and behavior symptoms in two patients with fragile X syndrome, a study reports. The study, “Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases,” was published in the…
Compounds that can restore potassium balance in some brain regions may potentially treat sensory hypersensitivity and other symptoms in patients with fragile X syndrome, a new study suggests. The study, “Modulators of Kv3 potassium channels rescue the auditory function of Fragile X mice,” was led by researchers from…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…
Zygel (ZYN002 CBD gel) has been granted fast track designation by the United States’ Food and Drug Administration (FDA) for the treatment of behavioral symptoms in patients with fragile X syndrome, its developer Zynerba Pharmaceuticals announced. A fast track designation is granted to a newly developed…
An Indiana University-affiliated venture fund has invested $200,000 in Confluence Pharmaceuticals to continue development of the company’s lead product for the treatment of fragile X syndrome. Along with AOP Orphan Pharmaceuticals, Confluence is developing a novel, clinically discovered adult and pediatric therapy for social and communication impairments…
A computer-based cognitive training program called Cogmed can improve working memory and cognition and increase the attention span of children and adolescents with fragile X syndrome, according to a clinical trial. Findings from the trial were published in the study, “Cognitive training for children and adolescents with fragile…
A newly developed version of the gene editing technology CRISPR — a non-viral delivery system called CRISPR-Gold — can effectively edit an autism-associated gene in a mouse model of fragile X, reducing the exaggerated repetitive behaviors common with the disorder. The study, “Nanoparticle delivery of CRISPR…
A mindfulness program run on a free mobile app may be a feasible way of easing stress in mothers of children with fragile X syndrome (FXS), especially the many who carry the disease-causing mutation passed on to their child, a study reports.
Implementing behavioral treatment via telehealth is a feasible and potentially cost-effective strategy for treating behavioral problems in boys with fragile X syndrome, a study shows. This strategy is able to circumvent the problem parents face when living in a rural area and cannot drive long distances to reach the nearest…
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