News

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Measuring levels of protein CD25 in blood and urine can help determine if ANCA-associated vasculitis is affecting patients’ kidneys, a study suggests. A research team published the study in the journal Nephrology Dialysis Transplantation. The title is “Urinary and serum soluble CD25 complements urinary soluble CD163 to detect active…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Differences in red blood cell size may help predict how active a blood vessel condition called granulomatosis with polyangiitis will be, and whether patients are likely to have a poor outcome, a South Korean study suggests. Granulomatosis with polyangiitis is a form of ANCA-associated vasculitis, or AAV. The study, “Red…

The Rare Autoimmune Rheumatic Diseases Alliance (RAIRDA) recently published a report highlighting the obstacles to diagnosis, treatment, and lifestyle experienced by people with rare autoimmune rheumatic diseases, like anti-neutrophil cytoplasmic autoantibody (ANCA) vasculitis, or AAV. The report, titled “Reduce, Improve, Empower,” was published Feb. 28, 2018, to…

A common antibiotic used to treat a variety of bacterial infections may trigger autoantibodies against the proteinase 3 protein — one of the two most common autoantibodies in ANCA-associated vasculitis (AAV) patients — and lead to blood vessel damage to the skin, according to a…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A combination treatment with Rituxan (rituximab), low-dose cyclophosphamide (Cytoxan), and tapered corticosteroids induces significant disease remission and reduces risk of relapse in patients with ANCA-associated vasculitis (AAV) with renal symptoms, U.K. researchers found. The study, “Long-term follow-up of a combined rituximab and cyclophosphamide regimen in…

Diagnosing ANCA-associated vasculitis in children and adolescents can pose difficulties for doctors, given its rarity and varied clinical course, researchers say. In a new study, investigators described the case of a teenager with MPO-positive vasculitis and severe pulmonary and renal symptoms, who went without a diagnosis for about four years. The…