News

Tetra Therapeutics’ investigational oral therapy BPN14770 safely and effectively improves cognitive function, particularly language-related domains, and daily functioning in men with fragile X syndrome, according to data from a Phase 2 clinical trial. “These results offer hope for patients with fragile X syndrome and their families,” Elizabeth…

Abnormal protein production associated with fragile X syndrome was coupled with altered cell growth that favored fast-growing cell types over those that become nerve cells during early development, a study has shown.  Blocking a signaling pathway known as PI3K corrected both excess protein production and…

Better access to information about fragile X-associated ataxia/tremor syndrome (FXTAS) could help improve the quality of life for men carrying fragile X syndrome premutations, according to the results of a small survey. The study, “Men with an FMR1 premutation and their health education needs,” was published in…

Ovid Therapeutics announced it is discontinuing work to further develop or test OV101 (gaboxadol) as a potential treatment of fragile X syndrome. Although OV101 was found to be safe and well tolerated in multiple clinical trials, its overall efficacy in these studies fell short, Ovid Therapeutics said in a…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Fathers or male caregivers of children with fragile X syndrome are invited to contribute to a U.K. film project exploring what it’s like to raise someone with learning or behavioral challenges. Olivia Hird, a documentary filmmaker for the nonprofit organization Nip in the Bud, is seeking cellphone videos…

Physical health is also affected by fragile X syndrome, with problems evident in the heart, digestive system, respiratory tract and even the teeth years before the cause of patients’ intellectual difficulties might be pinpointed, scientists report. Their study, “Artificial intelligence–assisted phenotype discovery of fragile X syndrome in…

As early as 12 months of age, children with fragile X syndrome (FXS) display signs of social anxiety, a study indicates. The study, “Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome,” was published in the Journal of Neurodevelopmental Disorders. Anxiety disorders…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…