Get regular updates to your inbox.
The investigational treatment BPN14770 improved language skills, cognition, and caregiver-assessed daily functioning ability in adults with fragile X syndrome, top-line results of a Phase 2 clinical trial show. “We are very excited about the results of this study,” Mark Gurney PhD, said in a press release. Gurney is…
The Australian Medical Services Advisory Committee (MSAC) has recommended that the costs of screening for mutations known to cause cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome be open to reimbursement for couples planning or in the early stages of pregnancy. Its favorable…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
The fragile X mental retardation protein (FMRP) — the protein missing in people with fragile X syndrome — helps prevent DNA damage and maintain genome stability, a study found. According to investigators, these findings may help shed new light on the molecular processes underlying fragile X. The…
Actinogen Medical announced plans to open a Phase 2 trial of its experimental oral therapy Xanamem in boys with fragile X syndrome early next year. The study, to be called XanaFX and take place in Australia, will be the…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Zygel, an experimental cannabidiol (CBD) gel, may lessen the extent of behavioral abnormalities in children with fragile X syndrome who have more severe disease, new clinical trial data suggest. The data were presented in a poster, titled “ZYN002 Cannabidiol Transdermal Gel in…
The U.S. Department of Education awarded $2.1 million to the University of California, Davis, MIND Institute to create a four-year college program for students with intellectual disabilities, including those with fragile X syndrome. The goal of the Supported Education to Elevate Diversity, or SEED, Scholar program is to…
The Patrick Wild Centre at The University of Edinburgh launched an online portal for its fragile X syndrome registry on Oct. 10, European fragile X awareness day. The new website, called eHub, is open to all affected by the disease or carrying a so-called premutation of the gene…
Connecta Therapeutics raised €1.7 million (about $2 million) in investments that will enable it to bring a potential fragile X syndrome (FXS) therapy to Phase 1 clinical trials in late 2021, and to Phase 2a stage by 2023. Fragile X is caused by mutations in the FMR1 gene,…
Get regular updates to your inbox.