Author Archives: Marisa Wexler MS

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

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…

The anticonvulsant carbamazepine can normalize behavior and memory in a mouse model of fragile X syndrome (FXS), suggesting that this medication might be re-purposed to treat people with this disorder, according to a study. The study, “Carbamazepine Restores Neuronal Signaling, Protein Synthesis, and Cognitive Function…

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…

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 National Institutes of Health (NIH) is awarding multi-year grants to three centers conducting collaborative research into fragile X syndrome: Baylor College of Medicine, Emory University, and Cincinnati Children’s Hospital Medical Center. Collectively, the centers will receive $25 million over the next five years, with…

Clinical improvements among participants receiving a placebo — known as the placebo effect — are common in clinical trials of fragile X syndrome, a study conducted by scientists across the U.S. suggests. The findings indicate that better trial designs, including different efficacy measurements, may be necessary in future…

The experimental cannabidiol (CBD) gel Zygel eased behavioral problems in children with fragile X syndrome and benefited those with greater disease severity according to their caregivers, new clinical trial data show. The data were presented virtually at the 17th NFXF International Fragile X Conference Research Roundup by…