News

Adolescents and adults diagnosed with fragile X syndrome (FXS) showed improvement in social gaze behavior — measured by their ability to maintain visual contact and the eye’s pupil reactivity — when treated with Novartis’ mavoglurant. The study, “Effects of mavoglurant on visual attention and pupil reactivity while…

Inhibiting the HDAC6 enzyme with an experimental agent called SW-100 improved memory and lowered learning impairments in a mouse model of fragile X syndrome (FXS), a study has shown. The study, “Brain Penetrable Histone Deacetylase 6 Inhibitor SW-100 Ameliorates Memory and Learning Impairments in a Mouse Model…

Early Check, a free newborn screening program for fragile X syndrome (FXS) that recently began testing in North Carolina, will address the feasibility of implementing an expanded newborn screening for fragile X to other states. The program and the current practice for the early identification of…

A new collaboration between Tetra Discovery Partners and Shionogi & Co. is aimed at accelerating the development of an innovative treatment called BPN14770 for fragile X syndrome and other disorders in strategic Asian markets. Valued at up to $160 million, the deal is expected to enable clinical-stage…

Mutations in the FMR1 gene are associated with atypical temperament that can emerge as early as infancy, particularly among infants with fragile X syndrome, a study has shown. The study, “Infant Temperament in the FMR1 Premutation and Fragile X Syndrome,” was published in the Journal of…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

One year of treatment with the cannabidiol gel ZYN002, being developed by Zynerba Pharmaceuticals, can provide sustained benefit to young patients with fragile X syndrome, data from a Phase 2 trial show. Twelve children and adolescents treated with ZYN002 gel absorbed through the skin once daily for 12 months experienced…

A greater ability to generate words, phrases and sentences correlates with lower autism spectrum disorder (ASD) symptom severity in adolescent and young adult males with fragile X syndrome (FXS), according to a study. The research, “ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult…

Mavoglurant is safe and well-tolerated in the long-term to treat adolescents and adults who have fragile X symptoms. The investigational compound also is associated with positive efficacy results, according to results from two clinical studies. The research with those findings, “Mavoglurant in Fragile X Syndrome: Results of…

Fragile X syndrome is among the four rare genetic disorders to be included in the world’s largest newborn screening study for rare diseases. The screening, financially supported by the Angelman Syndrome Foundation, the Foundation for Prader-Willi Research and the Victorian Medical Research Acceleration Fund, will also include…