News

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…

Some patients taking Brilinta (ticagrelor) for a condition called acute coronary syndrome might develop hypersensitivity to the medication that manifests as angioedema and sudden breathing problems, a new case report shows. The circumstances of a 69-year-old African man who developed angioedema shortly after receiving Brilinta was reported in the journal Case…

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…

The U.S. Food and Drug Administration (FDA) will review Shire’s application requesting that Cinryze (C1 esterase inhibitor [human]) be approved for the prevention of hereditary angioedema attacks in children 6  years and older. The supplemental biologics license application (sBLA) received priority review, meaning the process will be shortened from the standard 12 months…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…