In children 2 years of age or older with cystic fibrosis (CF), treatment with lumacaftor/ivacaftor (LUM/IVA) early in the disease course may modify disease progression, according to findings from a phase 2, placebo-controlled trial published in Annals of the American Thoracic Society. Among individuals with CF, mutations in the gene that encodes the CF transmembrane conductance…
The spinal muscular atrophy (SMA) gene therapy, onasemnogene abeparvovec, is safe and well tolerated when administered intrathecally, a phase 1 ascending-dose clinical trial called STRONG discovered. The trial also found that older patients given the medium dose of the treatment showed increases in Hammersmith Functional Motor Scale Expanded (HFMSE) scores, a measure of physical ability…
A new retrospective study enrolling patients with hemophilia suggests that, during an inhibitor event, concomitant use of immune tolerance induction (ITI) treatment and a bypassing agent (BPA) administered prophylactically could have higher clinical effectiveness than ITI alongside a BPA on-demand. The analysis of the clinical effectiveness of BPAs during ITI therapy showed that bleeding events…
Myasthenia gravis (MG) and achalasia could coexist at the same time, according to a study recently published in the Egyptian Journal of Neurology, Psychiatry and Neurosurgery. “In addition, it has raised neurologists’ knowledge and awareness of achalasia in patients of MG complaining of recurrent vomiting and dysphagia resistant to standard therapy, which includes thymectomy and rapid…
In patients with hemophilia A or B who undergo dental extractions, the use of hemostatic treatments and factor prophylaxis is associated with decreased rates of bleeding, according to findings from a retrospective analysis published in the Journal of Clinical Medicine. Among patients with hemophilia, dental extractions are frequently associated with bleeding and the need for…
The US Food and Drug Administration (FDA) has extended its Biologics License Application review of valoctocogene roxaparvovec (Roctavian™), a novel gene therapy for individuals with severe hemophilia A, BioMarin Pharmaceutical announced. The announcement noted that the FDA determined that the 3-year data analysis from the phase 3 GENEr8-1 clinical trial represented a major amendment and…
Some patients with spinal muscular atrophy (SMA) may present with characteristics that are not associated with the neuromuscular manifestations of the disease, as demonstrated by a case study published in BMC Neurology. This can complicate the diagnosis and treatment of the disease. This case could help clinicians take advantage of the diagnostic experience of the…
Which of the statements below about the guidelines for spinal muscular atrophy (SMA) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about SMA guidelines. Reference Mercuri E, Finkel RS, Muntoni F, et…
UniQure Inc has announced positive results from the HOPE-B clinical trial on the efficacy and safety of etranacogene dezaparvovec-drlb (Hemgenix®), the first gene therapy for adults with hemophilia B. The results, announced via news release, have been published in the New England Journal of Medicine. “HOPE-B was . . . the first and only phase…
There are differences related to age and thymoma among patients with myasthenia gravis in terms of aberrant plasmacytoid and conventional dendritic cell distribution, according to a new study published in Neuroimmunomodulation. These differences could contribute to impaired immune tolerance and lead to the onset of the disease, the authors of the study said. To identify…
