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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…
The investigational treatment BPN14770 improved language skills, cognition, and caregiver-assessed daily functioning ability in adults with fragile X syndrome, top-line results of a Phase 2 clinical trial show. “We are very excited about the results of this study,” Mark Gurney PhD, said in a press release. Gurney is…
The Australian Medical Services Advisory Committee (MSAC) has recommended that the costs of screening for mutations known to cause cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome be open to reimbursement for couples planning or in the early stages of pregnancy. Its favorable…
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