News

Long-term treatment with Zygel, Zynerba Pharmaceuticals’ experimental cannabidiol (CBD) gel, is tolerated well and leads to clinically meaningful behavioral improvements in children and adolescents with fragile X syndrome. That’s according to an interim analysis of nearly four years of data from the open-label extension (OLE) study ZYN2-CL-017…

Researchers have developed a highly-sensitive test that can reliably detect trace activity levels of FMR1 — the faulty gene in fragile X syndrome (FXS) — in the blood of patients who’d been thought to have none by current methods. This was done through the measurement of FMR1’s messenger RNA…

How the brain processes sound varies across three neuropsychiatric feature-based subgroups of women who carry so-called premutations in FMR1, the gene associated with fragile X syndrome, a pilot study showed. “Our findings suggest a spectrum of sensory processing characteristics present in subgroups of premutation carriers that have been previously understudied…

A deficiency in the FMRP protein, the underlying cause of fragile X syndrome (FXS), may affect the system within nerve cells that breaks down unwanted proteins, a mouse study suggests. Data showed that FMRP, its related protein FXR1, and DLG4 gene’s messenger RNA (mRNA) are involved in this protein…

University of Rochester researcher Lynne E. Maquat, PhD, is co-recipient of this year’s Gruber Genetics Prize for her discovery of nonsense-mediated mRNA decay (NMD), a protein quality control system within cells. Maquat and her team subsequently discovered that this control system is in overdrive in cells of people with…

KGK Science will launch a Phase 2a trial in the coming months to test NM-1001, a psilocybin microdose therapy — meaning one that contains low doses of the hallucinogenic compound — in people with fragile X syndrome. The company has received a needed exemption from the Canadian government…

The absence of fragile X mental retardation protein (FMRP) — absent or at low levels in people with fragile X syndrome — leads to protein changes linked to inflammatory processes in a brain region called the prefrontal cortex, according to a new study in mice. In mice without FMRP,…

Girls and women with fragile X syndrome show different learning impairments relative to boys and men with the disease, a finding that was paralleled in a mouse model of the disease, a study found. A feature common across both sexes and species was a difficulty in cognitive flexibility, or…

Cell growth and signaling, as well as cholesterol production, are significantly altered in lab-grown astrocytes — the star-shaped brain cells that provide support to neurons — derived from people with fragile X syndrome, a study shows. The patient-derived cells also had altered levels of a number of proteins that…

A pilot study in the U.S. shows that repeated sampling of hair follicles in people with fragile X syndrome, collected both at home and clinics, can be used to measure the levels of FMRP protein — whose production is impaired in fragile X patients. In addition, measuring FMRP levels using…