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Unusually low amounts of cholesterol in cellular structures called lipid rafts may contribute to behavioral differences seen in people with fragile X syndrome, a new study indicates. “The correlation between [lipid rafts] cholesterol and the clinical profile showed a significant association with autistic traits,” the researchers wrote. The study, “…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
A combination of approved medicines — lovastatin and minocycline — significantly improved several behavioral characteristics in adults with fragile X syndrome, according to caregivers who participated in a Phase 2 clinical trial. The researchers said they believed this was the first trial to assess the safety and effectiveness of…
Behavioral problems such as hyperactivity and aggression are generally more frequent in younger children with fragile X syndrome, becoming less common as they grow through adolescence and journey toward adulthood, researchers report. The study “Change in Behavior Problems from Childhood Through Adolescence for Children with Fragile…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
A team led by researchers at Fulcrum Therapeutics has developed new methods to measure the FMRP protein in blood cells. Using these tests, the scientists showed that FMRP levels in blood cells were statistically associated with intelligence quotient (IQ) scores among people with fragile X syndrome. The study,…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
The European Commission has granted orphan drug designation to Zygel, Zynerba Pharmaceuticals’ cannabidiol (CBD) transdermal gel candidate to treat for behavioral symptoms in people with fragile X syndrome. Orphan designation is assigned to promising therapies for life-threatening, rare diseases affecting fewer than 5 in every 10,000 people in…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
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