News

Zynerba Pharmaceuticals announced plans to open a pivotal clinical trial next year for its cannabidiol (CBD) gel Zygel in fragile X syndrome patients with severe symptoms, a group that showed improvements in a previous Phase 2/3 study.   According…

Techniques that evaluate the pattern of DNA methylation — a chemical modification normally associated with gene silencing — in a portion of the FMR1 gene are feasible and highly sensitive methods to diagnose fragile X syndrome in newborns, a study suggests. When used in newborn boys, and to a…

Confluence Pharmaceuticals will use a $100,000 investment to further its development of ACP, an investigational therapy that aims to treat social and communication impairments related to fragile X syndrome and autism spectrum disorder. The capital is from the Indiana University (IU) Philanthropic Venture Fund, which had…

The National Fragile X Foundation (NFXF) has launched the International Fragile X Premutation Registry to assist and encourage research into conditions caused by so-called premutations in the gene associated with fragile X syndrome. Created with an advisory committee of fragile X professionals, the registry has now been…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

Allos Pharma has obtained exclusive rights to arbaclofen, a potential treatment for fragile X syndrome. The news comes more than seven years after Seaside Therapeutics decided to stop a clinical trial (NCT01013480) due to resource…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Scientists found that small fish larvae lacking a functional fmr1 gene — the fish equivalent to the human FMR1 gene that, when mutated, causes fragile X syndrome — show changes in specific brain circuits that induce extreme sensitivity to sound. According to investigators, these findings may help shed…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Long-term, but not short-term, treatment with bryostatin-1 — Neurotrope’s lead investigational therapy — arrested such behavioral and cognitive symptoms as hyperactivity, difficulties with daily life activities, and learning and memory deficits in a mouse model of fragile X syndrome. These long-term effects are distinct from those seen…