News

The 20S-proteasome — the core of an enzyme complex responsible for eliminating unnecessary or damaged proteins in cells — may be a useful biomarker of disease activity in people with ANCA-associated vasculitis (AAV), a study shows. The study, “Serum 20S proteasome levels are associated with…

ANCA-associated vasculitis (AAV) carries high healthcare costs for therapies and hospitalizations to treat the disease itself and related infections, a study in Italy has found. The study, “Healthcare and economic burden of ANCA-associated vasculitis in Italy: an integrated analysis from clinical and administrative databases,” was published…

Muscle biopsies could be used to diagnose ANCA-associated vasculitis (AAV), a new study indicates. The finding suggests that such biopsies are most informative in females or in people with certain inflammation-related conditions. The study, “Muscle biopsy in anti-neutrophil cytoplasmic antibody–associated vasculitis: diagnostic yield depends on anti-neutrophil…

The presence or absence of ANCA antibodies appears to influence which organs are affected by eosinophilic granulomatosis with polyangiitis (EGPA), a rarer subtype of ANCA-associated vasculitis, a recent review of studies suggests. While EGPA patients carrying these antibodies will more likely develop nervous, renal, and skin manifestations…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

Extracellular vesicles, or the tiny membrane-bound particles that are released from cells, could be used as a blood biomarker of disease activity in people with ANCA-associated vasculitis (AAV), a new study suggests. The study, “Microparticles expressing myeloperoxidase as potential biomarkers in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides…

The complement system, a part of the immune system, is overactive in people with active ANCA-associated vasculitis (AAV), but achieving remission appears to lower most of its components to normal levels, a study reports. The study, “The alternative complement pathway in ANCA‐associated vasculitis: further evidence…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Plasma exchange does not prolong the survival of patients with severe ANCA-associated vasculitis connected with diffuse alveolar hemorrhage, a potentially life-threatening condition in which blood starts to build up in the lungs, a study has found. The results challenge the notion that plasma exchange therapy might improve…