News

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,…

A Brazilian study shows that C1 inhibitor (C1-INH) therapy is a safe and efficient option for long-term prophylaxis (prevention) of hereditary angioedema (HAE) in pregnant women with who have normal C1-INH levels. The research, “Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

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…