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The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to Neuronascent‘s investigational therapy NNI-351 for the treatment of fragile X syndrome (FXS). “With vast unmet need for novel therapies that can directly address pediatric FXS behavioral deficits, such as to improve education and social…
In an effort to both increase accuracy and remove offensive language in the name of FMR1 — the gene at the root of fragile X syndrome — the European Fragile X Network (EFXN) led a push to rename it Fragile X Messenger Ribonucleoprotein 1. The name change now…
In people with fragile X-associated tremor/ataxia syndrome (FXTAS), a condition related to fragile X syndrome that develops late in life, measures of dexterity and memory tend to worsen markedly over time, a new study shows. The results support the development of preventive treatments for FXTAS, according to its researchers.
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
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…
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