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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Tumors caused by granulomatosis with polyangiitis (GPA)-related lesions appear to be especially sensitive to radiation and can be treated effectively with low-dose radiotherapy, a case report suggests. The study, “Radiotherapy in advanced glottic laryngeal carcinoma in a patient with Wegener’s granulomatosis: how much radiation dose is needed?,”…

Real-world use of MabThera (rituximab) as an induction treatment for patients with ANCA-associated vasculitis (AAV) on low-dose prednisone led to successful complete remission rates that matched those seen in a key clinical trial, according to a study. However, the investigators believe that the increasing number of relapses after treatment…

In rare cases, eosinophilic granulomatosis with polyangiitis (EGPA) may serve as a trigger for thrombotic microangiopathy (TMA), a disease that affects the smallest blood vessels in the body and often involves blood clots, a case report suggests. It remains unclear why these two rare disorders may be interconnected. However, a common underlying…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Adding intravenous methylprednisolone pulses to standard treatment for inducing remission in severe cases of ANCA-associated vasculitis does not confer clinical benefits and increases the risk of infection and diabetes, a study suggests. The study, “Intravenous pulse methylprednisolone for induction of remission in severe ANCA associated Vasculitis: a multi-center retrospective…

ANCA-associated vasculitis (AAV) diagnoses increased and overall and renal survival improved over a period of 23 years, a real-world study in the U.K regions of Lancashire and South Cumbria reports. These improved outcomes may be due to earlier diagnosis and better management of AAV and chronic kidney disease in recent…

A new test measuring the relative abundance of immunoglobulin G4 (IgG4) RNA could be an indicator of granulomatosis with polyangiitis (GPA) activity and distinguish active disease from remission, a study suggests. The study, “IgG4:IgG RNA ratio differentiates active disease from remission in granulomatosis with polyangiitis: a…

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…