Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…

Platelet-derived microparticles (PMPs) — small particles produced and released by platelets in the blood — may worsen inflammation in patients with ANCA-associated vasculitis, according to a recent study. The findings of the study, “Platelets release proinflammatory microparticles in anti-neutrophil cytoplasmic antibody-associated vasculitis,” were published in Rheumatology.

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Dividing ANCA-associated vasculitis (AAV) into subgroups defined by type of antibodies does not provide additional value for clinical prognosis, according to recent research. The study, “Clinical impact of subgrouping ANCA-associated vasculitis according to antibody specificity beyond the clinicopathological classification,” appeared in the journal Rheumatology. Different…

Among ANCA-associated vasculitis patients in remission — particularly those with manifestations in their kidneys — the reappearance of MPO-ANCA antibodies may be a sign of disease relapse, a study suggests. The study, “Association Between Reappearance of Myeloperoxidase-Antineutrophil Cytoplasmic Antibody and Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis,” was…

A piece of an antibody targeting a protein involved in cholesterol transport and metabolism might be an effective treatment for anti-neutrophil cytoplasmic autoantibodies (ANCA) vasculitis, a study suggests. The study, “Efficacy of a recombinant single-chain fragment variable region, VasSF, as a new drug for vasculitis,” was published in …

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…