Marta Figueiredo, PhD, science writer —

Differences in pre-pandemic mother-daughter relationships, and social and adaptive behavior significantly predicted worries and impact of the COVID-19 pandemic in school-aged girls with fragile X syndrome (FXS), a U.S. study reports. Notably, this association pattern was distinct from that of matched girls without the condition, whose responses were determined…

An artificial intelligence (AI) model based only on the occurrence of health conditions previously and newly associated with fragile X syndrome accurately identified fragile X patients five years earlier than diagnosis, according to a study based on nearly 5,600 people in Wisconsin. Among early signs of fragile X were not…

A mouse model of fragile X syndrome has higher body weight and distinct metabolic changes relative to healthy mice and mouse models of two other neurodevelopmental disorders, a study shows. The findings highlight not only that each mouse model exhibits a unique, sex-specific metabolic signature, but also that problems…

Zynerba Pharmaceuticals reported receiving advice from the U.S. Food and Drug Administration (FDA) on the design of an upcoming Phase 3 clinical trial meant to confirm previous trial findings supporting  Zygel as a cannabidiol treatment in a specific subset of fragile X syndrome patients. The new trial, called…

Zynerba Pharmaceuticals’ experimental cannabidiol (CBD) gel Zygel results in statistically significant and clinically meaningful reductions in behavioral symptoms in children and adolescents with fragile X syndrome (FXS) and a fully methylated FMR1 gene, according to data from the Phase 2/3 CONNECT-FX trial. DNA methylation is a biochemical modification that…

Tetra Therapeutics’ investigational oral therapy BPN14770 safely and effectively improves cognitive function, particularly language-related domains, and daily functioning in men with fragile X syndrome, according to data from a Phase 2 clinical trial. “These results offer hope for patients with fragile X syndrome and their families,” Elizabeth…

The cannabinoid receptor 2 (CB2) is essential for protecting against nerve damage-related pain and its emotional effects in a mouse model of fragile X syndrome, a study shows. In addition, changes in the levels of pain-related molecules in the spine and in the amygdala (a brain region involved in pain…

Fragile X syndrome, or its associated psychiatric disorders, may lead to catatonia — a condition characterized by abnormal movements and behaviors — and to psychosis, according to a case report. In this rare case, both conditions in a teenage boy were successfully managed with a combination of psychotropic medications. The study,…

Treatment with istradefylline — an approved therapy for Parkinson’s disease — normalized several molecular and functional nerve cell features of fragile X syndrome and improved cognitive skills in a mouse model of the disease, a study shows. The therapy, sold by Kyowa Hakko Kirin Pharma under the brand name …

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…