News

AKT, an enzyme that is involved in multiple cellular processes, is overactivated in neural stem cells that lack the FMRP protein, as is the case in fragile X, leading to the stimulation of a cellular quality control pathway called NMD, according to a new study. Blocking AKT in these…

A new fund at the University of California, Davis (UC Davis) MIND Institute seeks to speed up turning new research discoveries into therapeutic interventions for people with fragile X syndrome and other developmental conditions. The Translational Research Impact Fund was established by a posthumous donation from Leon Goldstein, who…

Arbaclofen, an investigational medicine for fragile X syndrome, was found to improve certain aspects of behavior in about half of children, ages 5 to 11, who entered a placebo-controlled Phase 3 clinical trial. The findings unfolded from a new look into trial data by therapy developer Seaside Therapeutics, before…

Treatment with Anavex2-73 (blarcamesine), an experimental therapy that Anavex Life Sciences is developing to treat fragile X syndrome led to certain signaling pathways in immune cells normalizing in mouse model experiments. Analyzing these immune signaling pathways could help track the effect of the investigational medication in future clinical…

A gene therapy using a modified form of an enzyme called diacylglycerol kinase kappa (DGKk) led to the long-term rescue of behavioral symptoms in a mouse model of fragile X syndrome, according to a recent study. Lysogene, which was involved in the studies, is currently developing the…

Tetra Therapeutics has launched three pivotal Phase 2b/3 studies to continue to assess the safety and effectiveness of BPN14770, its investigational oral therapy for fragile X syndrome. The results, if they’re in agreement with previous positive data from a Phase 2 trial, will support Tetra’s application…

The International Fragile X Premutation Registry (IFXPR) — now enrolling — aims to accelerate research to better understand the impact on health of premutations in the gene associated with fragile X syndrome. One goal of the IFXPR, launched in the U.S. in 2020 and since going global,…

The University College of London (UCL) has licensed VSN16R, an investigational oral treatment for fragile X syndrome, to U.S.-based Lenire Biosciences. Although originally developed by UCL researchers for treating muscle spasticity in multiple sclerosis, recent preclinical data showed that VSN16R could lessen behavioral symptoms in a…

Katie Clapp said she thinks there were just five scientists researching fragile X syndrome when she attended her first conference about the disorder shortly after her son’s diagnosis in 1992. Today there are hundreds, if not thousands, of teams around the world working on the condition, which can…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…