News

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

The European Medicines Agency issued a positive opinion on BioCryst Pharmaceuticals’ application for orphan drug status of BCX7353 to treat hereditary angioedema (HAE). The European Commission is expected to adopt the recommendation from the EMA’s Committee for Orphan Medicinal Products in the next 30 days. With orphan drug designation, BCX7353 will receive…

Treatment with human plasma-derived C1-INH is an effective and safe option for managing symptoms of severe hereditary angioedema during pregnancy and delivery, a Swedish case report suggests. The study, “Management of Women with Hereditary Angioedema During Pregnancy and Delivery,” was published in the Journal of Anesthesia, Surgery and…

The most common type of angioedema mediated by bradykinin is caused by the use of common blood pressure medications called angiotensin-converting enzyme inhibitors, a review study shows. This is followed by hereditary angioedema and recurrent angioedema, occurring due to an acquired C1-inhibitor deficiency, researchers say. The study, “…

Lisinopril, a medication widely used to treat high blood pressure and other cardiovascular disorders, sometimes may trigger small bowel angioedema, suggests a case report. While rare, physicians should recognize angioedema as a possible side effect of lisinopril, and provide timely diagnosis and adequate treatment in the presence of acute abdominal pain.

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD), held…

Self-administration of Berinert was found to be safe and effective and reduces the need for emergency room visits during acute attacks in patients with hereditary angioedema type 1, according to researchers. Their study, “…

Comparing the genetic profile of patients with hereditary angioedema during remission and in acute attacks, researchers identified two genes that seem to participate in edema formation. The genes – uPAR and ADM – are involved in vessel dilation and inflammation, and may be potential therapeutic targets for the disease. The…

A new strategy that uses small protein fragments with an unconventional structure may be used to target many different disease-related proteins, according to French researchers. The team at the Ecole Polytechnique Fédérale de Lausanne has already developed a molecule that targets kallikrein, the protein that causes hereditary angioedema, and another targeting…