A new analysis that reviewed data from 2 studies in patients with pulmonary arterial hypertension (PAH) has found a benefit to initiating selexipag therapy within 6 months of diagnosis. The study, published in ERJ Open Research, found reduced disease progression in newly diagnosed patients in the TRITON and GRIPHON clinical trials who were on active…
Researchers determined that the minimal clinically important difference in 6-minute walk distance (6MWD) is around 33 meters for adults with pulmonary arterial hypertension (PAH). Their study is published in the American Journal of Respiratory and Critical Care Medicine. PAH is characterized by elevated pulmonary vascular resistance and right ventricular failure. Clinical trials that have led…
Liver transplantation was successfully performed in a pediatric patient with Alagille syndrome (ALGS) and a concomitant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, according to a case report recently published in Hepatology Research. The patient, a 3-year-old girl with liver cirrhosis, was admitted to a hospital for deceased-donor liver transplantation. As the patient’s liver…
The US Food and Drug Administration (FDA) has lifted the clinical hold on the FORTIS clinical trial that was testing the experimental Pompe disease treatment AT845, according to a press release from Astellas, the developer of the treatment. “With that same spirit and focus on patient safety, we look forward to resuming the FORTIS clinical…
The accurate diagnosis and multidisciplinary treatment of hereditary transthyretin amyloidosis are central to improving patients’ quality of life.
Which of the statements below about the therapies for Pompe disease 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 Pompe disease gene therapy. References A gene transfer study for late-onset Pompe…
Around one-fifth of elderly patients with transthyretin amyloidosis cardiomyopathy (ATTR-CM) have a pathogenic TTR variant, according to a study published in the European Journal of Heart Failure. ATTR-CM has gained increasing recognition in recent years, aided by advances in imaging studies, such as cardiac magnetic resonance and scintigraphy with bone tracers. This has coincided with…
Almost a third of patients with Pompe disease treated with recombinant alglucosidase alfa (rhGAA) developed anaphylaxis in a study published in the International Archives of Allergy and Immunology. When rapid drug desensitization (RDD) with rhGAA was applied no serious breakthrough reactions occurred. “Anaphylaxis with rhGAA is not rare,” the study authors concluded. They also said…
Patients with hereditary transthyretin amyloidosis (hATTR) often have ocular manifestations that may be associated with devastating consequences to best-corrected visual acuity (BCVA) and quality of life, according to the results of a cross-sectional, noninterventional study conducted in Spain and published in Retina. The researchers sought to determine ophthalmologic involvement in patients with hATTR and its…
Enzyme therapy for lysosomal storage diseases has evolved recently; however, current enzyme therapies have limitations.
