News

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…

Takhzyro (lanadelumb), an antibody already approved for routine prevention of hereditary angioedema (HAE) attacks in patients ages 12 and older, was found to safely reduce the number of monthly attacks experienced by adolescents in a Phase 3 clinical trial. The study, “Efficacy and safety of lanadelumab for prophylactic treatment…

Angiotensin-converting enzyme (ACE) activity levels can vary among different donors of fresh frozen plasma (FFP) — commonly used for the treatment of non-allergic angioedema triggered by ACE inhibitors — which may partially explain why clinical outcomes differ among these patients, a study reports. The study, “Possible donor-dependent differences in…

A recently described mutation in the plasminogen (PLG) gene has been reported in an additional family in Germany with hereditary angioedema (HAE), highlighting the importance of raising awareness among clinicians for this rare HAE-causing mutation to ensure correct disease diagnosis and treatment, scientists say. Findings were reported in…

Haegarda, a concentrated form of C1 inhibitor (C1-INH), is safe and effectively helps to prevent hereditary angioedema attacks in the long-term, allowing patients to become free of disease symptoms, That is the finding of a Phase 3 extension study, “Long-term outcomes with subcutaneous C1-inhibitor replacement therapy for prevention…

The three prophylactic medicines currently on the market for hereditary angioedema (HAE) — the C1 esterase inhibitors Cinryze and Haegarda, and Takzyhro (lanadelumab) — all reduce the number and severity of swelling attacks in patients with type 1/2 disease, without significant adverse events, a study found. But researchers report that these…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…

There is a significant delay between symptom onset and an accurate diagnosis of hereditary angioedema (HAE) in Brazil, even in patients with a family history of the disease, according to a single-center study. Patients waited an average of 17.7 years from symptom onset to diagnosis, with one experiencing a…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…