News

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, “…

Healx and Boehringer Ingelheim are partnering to speed up the discovery of new treatments for rare neurological diseases such as fragile X syndrome. Under the agreement, Healx’s artificial intelligence (AI) drug discovery platform, called Healnet, will be used in the identification of new indications for products in…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

A new method can accurately quantify genetic variants called short tandem repeats (STRs) and may improve diagnosis of fragile X syndrome and other disorders, a study suggests. The method was described in the study, “Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing,”…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.