News

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…

The U.S. Food and Drug Administration plans a priority review of lanadelumab, Shire’s kallikrein inhibitor to prevent hereditary angioedema swelling attacks. Shire is asking for the therapy’s approval for patients aged 12 and older. Priority review means the FDA must make its final decision on Shire’s Biologics License Application in…

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…

A long-term clinical trial testing BCX7353’s ability to prevent hereditary angioedema (HAE) attacks is dosing its first group of participants, BioCryst Pharmaceuticals announced. “Initiation of the APeX-S trial is an important milestone to support filing and approval of BCX7353, and furthers our core strategy of bringing a once-daily, oral prophylactic…

Subcutaneous Haegarda as a routine prevention for attacks of hereditary angioedema (HAE) significantly improves patients’ quality of life, such as lower anxiety levels and increased productivity at work, researchers found. The study, “Health-Related Quality-of-Life with Subcutaneous C1-inhibitor for Prevention of Attacks of Hereditary Angioedema,” was published…