News

A Phase 1 clinical trial is recruiting adults with fragile X syndrome to study the brain processes underlying altered behavior and cognition, according to the FRAXA Research Foundation. Conducted at Stanford University, the study is seeking to enroll approximately 15 males with fragile X, ages 18…

Loss of the fragile X mental retardation protein (FMRP), the protein missing in people with fragile X syndrome, was found in mouse and human astroglia — nerve cells that support and protect neurons — to activate a signaling pathway that ends up disrupting cell communication in the…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

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…