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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Angioedema can develop, although rarely, in people after they’ve been given angiotensin-converting enzyme (ACE) inhibitors, sometimes years after the therapy is initially administered, according to a new case report. The report, titled “Angioedema Two Weeks After the Initial Administration of an ACE Inhibitor,” was published in…

A newly identified mutation in the plasminogen (PLG) gene is associated with a characteristic hereditary angioedema (HAE) phenotype and may represent a new HAE subtype, a German study reports. The research, “A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary…

The European Medicines Agency (EMA) will begin an accelerated review of Shire’s lanadelumab, a treatment candidate to prevent hereditary angioedema (HAE) swelling attacks, the company announced. This follows the EMA’s acceptance of Shire’s marketing authorization application (MAA) for the potential therapy, which reduces the number of days…

In rare cases, people with either lymphoma or a non-cancerous blood condition can develop acquired angiodema without hives, a case study reports. The hallmark of the non-cancerous condition, monoclonal gammopathy, is abnormal antibodies in the blood. Hives are red welts on the skin. Angioedema is a condition that normally involves…

In rare cases, patients with autoimmune diseases or immune cell proliferation may experience deficiencies in C1 esterase inhibitor and develop acquired angioedema. Researchers at the Reading Hospital in Pennsylvania and Mayo Clinic Hospital in Minnesota have described the case of a leukemia patient who developed acquired angioedema, manifesting as recurrent…

Medications used to treat hypertension and other cardiovascular diseases may sometimes trigger angioedema, a case report of a woman with small bowel angioedema suggests. While rare, the report highlights the importance of recognizing these treatment-related side effects for timely diagnosis and adequate treatment. The case report, “…

A Phase 3 trial testing BCX7353, an inhibitor of plasma kallikrein for the prevention of swelling attacks in hereditary angioedema (HAE) patients, has dosed its first participant, BioCryst Pharmaceuticals announced. The trial, APeX-2, will include roughly 100 patients with type 1 and type 2 hereditary angioedema in several centers in the…

Lanadelumab, an antibody that binds and inhibits plasma kallikrein, effectively reduces the number of swelling attacks and improves quality-of-life scores in patients with hereditary angioedema (HAE) when used as a preventive treatment, new data from the Phase 3 HELP study shows. The findings, which support the clinical benefits of lanadelumab as…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…