Once-weekly efanesoctocog alfa beneficial in severe hemophilia A

Once weekly efanesoctocog alfa provides superior bleeding prevention to prestudy prophylaxis for patients with severe hemophilia A, according to a study published in the Jan. 26 issue of the New England Journal of Medicine. Annette von Drygalski, M.D., Pharm.D., from the University of California in San Diego, and colleagues conducted a phase 3 study involving patients

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NIH researchers are shedding light on a mystery medical condition called VEXAS syndrome believed to affect more than 15,000 people in the United States.

Identified in 2020, VEXAS syndrome is a rare, genetically linked disorder with a high death rate. VEXAS syndrome is a disease that causes inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene of blood cells and acquired later in life. Patients do not pass the disease to their children. The syndrome

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NIH clinical trial leads to atezolizumab approval for advanced alveolar soft part sarcoma

A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in the first approval of a treatment for advanced alveolar soft part sarcoma (ASPS). The immunotherapy drug atezolizumab (Tecentriq) was recently approved by the U.S. Food and Drug Administration (FDA)(link is external) for the treatment of adults and

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Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2

Therapy up to 4.5 years led to gains in motor function: analysis published in Brain & Development Up to 4.5 years of Spinraza (nusinersen) treatment led to meaningful improvements in motor function in adolescents and adults with spinal muscular atrophy (SMA), according to a medical records analysis. “[Spinraza] was effective in long-term follow-up,” researchers wrote. Noting a dearth of

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Acute hepatitis of unknown origin in children: an update by the European Reference Network ERN RARE-LIVER

Unexplained cases of acute liver inflammation in children, especially in the United Kingdom (UK) were reported earlier this year. In response, the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) conducted a thorough investigation that did not confirm the alarming observation from the UK in other European countries. However, an infectious cause remains the main suspected

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FDA’s Center for Drug Evaluation and Research (CDER) Launches New Accelerating Rare disease Cures (ARC) Program

FDA’s Center for Drug Evaluation and Research (CDER) has announced the launch of the new Accelerating Rare disease Cures (ARC) Program. The goal of the CDER ARC Program is to speed and increase the development of effective and safe treatment options addressing the unmet needs of patients with rare diseases. Launched in May 2022, CDER’s Accelerating Rare disease

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Kids with rare autoimmune disease antiphospholipid syndrome show these symptoms before blood clots 

Antiphospholipid syndrome is rare in adults and even less common among children.  Each year, around two of every 100,000 American adults receive a new diagnosis of antiphospholipid syndrome, or APS, an autoimmune disease known to cause inflammation and recurring, potentially fatal, blood clots. The number of children with APS is likely much smaller but unknown –

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NIH National Eye Institute researchers identify potential AMD drugs with stem-cell based research tool

Model replicates features of complex disease and provides platform for screening existing drugs Using a stem-cell-derived model, researchers have identified two drug candidates that may slow dry age-related macular degeneration (AMD), a leading cause of blindness for which no treatment exists. The scientists, from the National Eye Institute (NEI), part of the National Institutes of

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New international consortium to promote stem cell-based therapy to treat Huntington’s disease

The Stem Cells for Huntington’s Disease ( SC4HD ) is a new international consortium created to drive advanced therapy drugs (ATMP), through stem cell transplantation, to treat Huntington’s disease. The entity, made up of twenty-eight renowned researchers from ten countries, has been officially featured in the Journal of Huntington’s Disease . The main objectives of the SC4HD consortium are to

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