Author Archives: Patricia Inacio PhD

Genetic testing for fragile X syndrome (FXS) should be reserved as a second-line strategy for people without clinical features or family history suggestive of FXS, according to a Canadian study. Researchers argued that 96% of FXS cases were identified through clinical symptoms and/or family history of FXS. The study…

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…

A Phase 2/3 trial testing the cannabidiol gel Zygel as a treatment for behavioral symptoms in children and teenagers with fragile X syndrome has completed screening for eligible participants. As a result, Zynerba informed clinical sites that screening has closed. The…

Increasing the levels of the SOD2 protein in mitochondria — the powerhouses of cells — may help halt symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS), an early study suggests. The study, “Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of…

The CONNECT-FX trial testing the cannabidiol (CBD) gel Zygel as a treatment for behavioral symptoms in children and teenagers with fragile X syndrome has nearly completed enrollment. Zynerba, the company developing the gel — which is placed on the skin of the shoulder or upper arm —…

Distinct neurodegenerative disorders can occur simultaneously in the same individual, as described in a case report of a man with fragile X-associated tremor-ataxia syndrome (FXTAS) and progressive supranuclear palsy (PSP). Analysis of his brain alterations suggested that the two conditions developed independently. The research, “Fragile X-associated tremor…

One in every 777 pregnant women in Taiwan carries a premutation in the FMR1 gene, which is associated with a greater likelihood of having a child with fragile X syndrome, a large study reports. This is a higher-than-anticipated prevalence, although lower than Western populations, the scientists noted. The research, “…

A single-step genetic test that quantifies a specific mark in the FMR1 gene may help diagnose cases of fragile X syndrome that are not identified by current approaches, a new study reports. Titled “Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for…

Boys with fragile X syndrome (FXS) who experience negative emotions such as anger and fear up to preschool age are more prone to develop anxiety, a new study suggests. The study, “Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism,” was published…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce the load of inhibitory signals in the brain, resulting in “noise” that halts the ability to perceive and discriminate cues from the outside world, a study of fruit flies suggests. The study, “Reduced Lateral Inhibition…