News

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…

Almost half of emergency department visits for fragile X syndrome result in hospitalizations, according to a nationwide study in the U.S. The finding underscores the importance of surveillance systems capable of identifying and keeping track of fragile X patients as they move through the healthcare system, scientists said. The…

The U.S. Food and Drug Administration (FDA) and Zynerba Pharmaceuticals will meet later this year to discuss the results of the CONNECT-FX trial and next steps regarding a potential regulatory approval of the experimental cannabidiol (CBD) gel Zygel for fragile X syndrome, according to the company.

Shortage of energy due to leaky mitochondria — the powerhouses of cells — contributes to behavioral abnormalities in fragile X syndrome, a study has found. Closure of the leaky mitochondrial membrane with a form of a Parkinson’s disease medicine boosted energy production and reversed autism-like behaviors…

Scientists have discovered part of the mechanisms underlying synaptic plasticity — the process that allows nerve cell connections called synapses to become stronger or weaker over time — that are responsible for controlling how the brain stores information in the form of memories. According to the team, these findings…