News

People with fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications…

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…

Sleep abnormalities are associated with limitations in vocabulary in very young children with developmental conditions including fragile X syndrome, a study reports. Although preliminary, the results suggest that strategies aimed at improving sleep in young children with developmental disorders might also help improve language skills. The study, “…

Specific cognitive deficits in mothers of children with fragile X syndrome are significantly linked to their genetic profile and are worse in older age, a study has found. The study, “Inhibition deficits are modulated by age…

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 —…

Ovid Therapeutics is expecting to have data from a Phase 2 trial testing OV101 (gaboxadol) in teenagers and young adults with fragile X syndrome later this year. The main goal of the randomized double-blind ROCKET study (NCT03697161) is to assess the safety and tolerability of OV101…

Reducing the level of a protein called ICAM5 in the brain improved memory and eased anxiety in a mouse model of fragile X syndrome, a new study shows. The study, “ICAM5 as a novel target for treating cognitive impairment in Fragile X Syndrome,” was published in the Journal…

A group of proteins linked with nerve cell defects could represent promising treatment targets for people with fragile X tremor-ataxia syndrome (FXTAS), a study in mice suggested. The study, “Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS,” was published in the journal…

Atypical gazing when looking at facial expressions is associated with social cognition and language abilities in women with a premutation in the FMR1 gene, a new study has found. The study, titled “Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation,” was published in the…

The expansion of DNA repeats in the FMR1 gene, which leads to fragile X syndrome, is independent of changes that stop production of the resulting FMRP protein, according to an analysis of a family with fragile X.  The study, “…