News

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…

A Phase 1 clinical trial is recruiting adults with fragile X syndrome to study the brain processes underlying altered behavior and cognition, according to the FRAXA Research Foundation. Conducted at Stanford University, the study is seeking to enroll approximately 15 males with fragile X, ages 18…

Loss of the fragile X mental retardation protein (FMRP), the protein missing in people with fragile X syndrome, was found in mouse and human astroglia — nerve cells that support and protect neurons — to activate a signaling pathway that ends up disrupting cell communication in the…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…