News

A small RNA molecule detectable in urine, called miR-125a, may provide a new biomarker for fragile X syndrome that could be used to group patients based on individual differences in brain pathways, an early study suggests. The study, “Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

Caring for kids with fragile X syndrome — the most common inherited cause of intellectual disability — is challenging even under normal circumstances. Now, as the worst pandemic in more than 100 years sweeps the planet, those difficulties are compounded many times over, says Lidia V. Gabis, MD. Gabis…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

A tool to assess language, called expressive language sampling (ELS), found that people with fragile X syndrome have less complex speech, more disruptions in speech, greater talkativeness, and a lesser ability to be understood than those with typical development, a study…

People with fragile X syndrome experience greater independence in daily activities and less severe behavioral problems over time, a trend that stabilizes or reverses when they reach their 30s, a study suggests. Researchers found that higher levels of autism spectrum disorder (ASD) symptoms were linked to lower independence…

Using a genetic technique called triplet-primed polymerase chain reaction (TP-PCR) could enable practical and inexpensive diagnosis of fragile X syndrome, a study suggests. The study, “Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals,”…

Tetra Therapeutics and Shionogi announced plans to expand their partnership supporting BPN14770, a treatment candidate for disorders marked by cognitive and memory deficits, including fragile X syndrome and Alzheimer’s disease. The agreement builds on an earlier collaboration between the two companies, and aims to further accelerate…

Zynerba Pharmaceuticals has completed enrollment for the CONNECT-FX trial testing its cannabidiol gel, Zygel, as a treatment for behavioral symptoms in children and teenagers with fragile X syndrome. Recruitment took place at 21 clinical sites in the United States, Australia, and New Zealand. Topline results from…

Treatment with Zygel (ZYN002) may help ease the significant effects fragile X syndrome (FXS) has on children, updated results of a Phase 1/2 clinical trial suggest. Zynerba Pharmaceuticals presented the results at the 2020 American Society for Experimental Neurotherapeutics…