Patricia Inácio, PhD, science writer —

Weekly infusions with allopregnanolone, a natural brain steroid, for up to 12 weeks may help enhance levels of the GABA neurotransmitter and improve cognitive outcomes in patients with fragile X-associated tremor/ataxia syndrome, a small study suggests. The study, “Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in…

Zynerba Pharmaceuticals’ investigative therapy ZYN002 — a pharmaceutically produced cannabidiol (CBD) gel — was seen to significantly improve behavioral symptoms in children and adolescents with fragile X syndrome (FXS), according to new Phase 2 clinical data. “These data are consistent and compelling, and suggest that ZYN002 may have a clinically…

Zynerba Pharmaceuticals has launched a pivotal Phase 3 clinical trial, called CONNECT-FX, that will assess the safety and effectiveness of its cannabis-based ZYN002 as a potential therapy to treat behavioral symptoms in patients with fragile X syndrome. Top-line results from the trial are expected in…

Children with fragile X syndrome exhibit abnormal gesture use (a form of non-verbal communication) early in development, partially accounting for autism spectrum disorder (ASD) symptom severity, according to a recent study. The study “Early gesture use in fragile X syndrome” was published in the Journal of Intellectual Disability Research.

Scientists have developed a new technique for genetic testing that can predict a woman’s risk of having a child with fragile X syndrome when she carries a specific type of mutation. The study that discusses the method, “Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule…

The FRAXA Research Foundation has awarded two $90,000 grants to university research projects that aim to identify new targets for fragile X syndrome therapies. The funded projects will use mini-brains grown in the laboratory to unravel the mechanisms underlying the disease and also understand what is behind the loss of…

Originally approved for hypertension, the injectable medicine bumetanide was able to correct an imbalance in nerve cells that underlies sensory problems linked to fragile X syndrome, a new mouse study shows. The study “Critical period inhibition of NKCC1 rectifies synapse plasticity in the somatosensory cortex and restores adult tactile response…

Interventional strategies that foster the development of academic and living skills are necessary to assure the independence of adult fragile X patients, especially those with autism, shows a U.S. study based on a survey. The study “A comparison of functional academic and daily living skills in males with fragile…

Investigational therapy BPN14770 has received orphan drug status from the U.S. Food and Drug Administration as a treatment for fragile X syndrome, Tetra Discovery Partners recently announced. BPN14770, a small molecule therapeutic agent developed by Tetra Discovery, inhibits the phosphodiesterase type-4D (PDE4D) enzyme linked to memory formation and learning…

The gene-editing technology CRISPR/Cas9 was able to restore the expression of the FMR1 gene in nerve cells, the underlying cause of fragile X syndrome. The study “Rescue of Fragile X syndrome neurons by DNA methylation editing of…