News

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

A significant proportion of patients who test positive for antibodies associated with ANCA-associated vasculitis (AAV) do not have the disease, according to a study. Its findings also suggested that a higher threshold of these antibodies could be used to improve diagnosis of the condition, since people with higher levels…

Pain and swelling in the testes, in rare cases, may be the first symptoms of ANCA-associated vasculitis, even among patients without other symptoms associated with this disease, researchers reported, noting that testicular vasculitis is often misdiagnosed. The study, “Testicular granulomatous vasculitis mimicking testicular torsion in an anti-neutrophil…

Long-term disease and treatment-related damage reduce the muscle strength and physical capacity of people with ANCA-associated vasculitis. The resulting reduction in physical activity diminishes the quality of life, a study suggests. The study, “Leg muscle strength is reduced and is associated with physical quality of life…

Abnormal antimicrobial traps found in inflammatory lesions from ANCA-associated vasculitis patients might be correlated with disease development, a study suggests. The study, “The formation and disordered degradation of neutrophil extracellular traps in necrotizing lesions of anti-neutrophil cytoplasmic antibody–associated vasculitis,” was published in The American Journal of Pathology.

Lower doses of Rituxan (rituximab) appear to be as safe and effective as the standard Rituxan regimen for inducing remission in ANCA-associated vasculitis (AAV) patients, a retrospective Japanese study suggests. The study, “Low-dose rituximab as induction therapy for ANCA-associated vasculitis,” was published in Clinical Rheumatology.

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The use of radiation therapy on granulomatosis with polyangiitis (GPA) patients with cancer should be done with caution to avoid potential complications, a case report suggests. The study, “Lower cranial nerve palsy during radiotherapy for glottic cancer in a patient with Wegener’s granulomatosis: An interesting case report,” appeared in…

PredictImmune has expanded its intellectual propriety portfolio with a new patent approved in Canada covering the company’s methods for predicting the risk of progression among patients with autoimmune diseases, like ANCA-associated vasculitis (AAV) and inflammatory bowel disease (IBD). This follows the 2018 approval of previous patent applications…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…