News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

BioCryst Pharmaceuticals is seeking the approval of Orladeyo (berotralstat) in the United Kingdom as a preventive treatment for sudden and recurrent swelling attacks in people with hereditary angioedema (HAE), ages 12 and older. If granted, Orladeyo would become the first oral therapy — found in trials to be…

Long-term treatment with the approved therapy Haegarda leads to improved quality of life in people with type 1 or 2 hereditary angioedema (HAE), new clinical trial data show. The findings were published in the Orphanet Journal of Rare Diseases, in a study titled “Long-term health-related…

BioCryst Pharmaceuticals’ Orladeyo (berotralstat) has been recommended for approval in the European Union as the first oral therapy for preventing swelling attacks in people with hereditary angioedema (HAE), ages 12 and older. The recommendation was made by the Committee for Medicinal Products for Human Use (CHMP), an arm…

A single dose of PHA121 (PHA-022121), Pharvaris’ investigational therapy for hereditary angioedema (HAE), is safe and can rapidly and sustainably block bradykinin-induced changes in blood parameters, according to two studies in healthy volunteers. According to the company, these findings indicate PHA121 may be well…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Subcutaneous (under-the-skin) administration of human plasma-derived C1 inhibitor is an effective and safe option for managing hereditary angioedema during pregnancy and lactation, a case report suggests. The study, “Subcutaneous C1‐Inhibitor Concentrate for prophylaxis during pregnancy and lactation in a patient with C1‐INH‐HAE,” was published in the…

People with hereditary angioedema (HAE) would prefer an oral medication that could prevent their attacks, even when satisfied with their current treatment, a survey of patients in the U.S. reports. The study, “Hereditary angioedema patients would prefer newer-generation oral prophylaxis,” was published in the Journal…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…