Rare Daily Staff

Pharming Group said it submitted an application with the U.S. Food and Drug Administration to market Ruconest, which is intended to prevent attacks of hereditary angioedema, or HAE, a rare genetic disease characterized by recurrent and potentially fatal swelling of extremities, the gastrointestinal tract, and upper airways.  

Ruconest, which is approved for the treatment of acute Hereditary Angioedema attacks in patients in Europe, the United States, Israel, and South Korea. It is a recombinant Human C1 Esterase Inhibitor. Pharming Group submitted data to the FDA that includes data from two completed trials for the prophylaxis of HAE attacks: a randomized, double-blind, placebo-controlled trial and an open-label study. The two studies enrolled a total of 56 patients and showed consistent efficacy and safety results, the company said.

“HAE patients in the U.S. are currently facing a shortage of plasma-derived C1 inhibitor used to prevent attacks,” said Bruno Giannetti, COO of Pharming. “We understand that this supply disruption has had serious consequences for them, including additional stress, disease-related complications, and hospitalizations. We look forward to working with FDA and potentially providing these patients an alternative and plasma free option for HAE prophylaxis.”

HAE is characterized by spontaneous and recurrent episodes of swelling of the skin in different parts of the body, as well as in the airways and internal organs. Edema of the skin usually affects the extremities, the face, and the genitals. Patients suffering from this kind of edema often withdraw from their social lives because of the disfiguration, discomfort and pain these symptoms may cause. Almost all HAE patients suffer from bouts of severe abdominal pain, nausea, vomiting, and diarrhea caused by swelling of the intestinal wall.

Edema of the throat, nose, or tongue can be particularly dangerous as this can lead to obstruction of the airway passages and be potentially life threatening. Although there is currently no known cure for HAE, it is possible to treat the symptoms associated with edema attacks.

HAE affects about 1 in 10,000 to 1 in 50,000 people, worldwide experts believe that a lot of patients are still seeking the right diagnosis: although HAE is easy to diagnose, it is frequently identified very late or not discovered at all, and is often misdiagnosed because the symptoms are similar to those of many other common conditions, such as allergies or appendicitis.

November 27, 2017

Photo: Bruno Giannetti, COO of Pharming