News

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,…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

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…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

School-aged girls with fragile X syndrome are less aware of bullying than children of the same age and intellectual abilities, a study suggests. These findings indicate that difficulties in interpreting social signals could place these girls in vulnerable situations. Developing socials skills…

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…