Treatment for rare genetic disease approved by FDA

FDA has approved C1 Esterase Inhibitor [Recombinant] (Ruconest, Salix and Pharming Group) for the treatment of acute attacks in adult and adolescent patients with hereditary angioedema (HAE).

Hereditary angioedema, which is caused by having insufficient amounts of a plasma protein called C1-esterase inhibitor, affects approximately 6,000 to 10,000 people in the United States. People with HAE can develop rapid swelling of the hands, feet, limbs, face, intestinal tract, or airway. These acute attacks of swelling can occur spontaneously, or can be triggered by stress, surgery or infection. Swelling of the airway is potentially fatal without immediate treatment.

“Ruconest is administered at a higher dose than plasma-derived C1 inhibitor products, which may provide superior efficacy in treating angioedema attacks,” said Bruce Zuraw, MD, division chief of the division of rheumatology, allergy and immunology in the Department of Medicine, UC San Diego and inaugural holder of the US Hereditary Angioedema Association (HAEA) Endowed Chair.  “As a recombinant product, Ruconest also has several key advantages, including: lack of risk of blood-borne infectious agent transmission and lack of dependence on blood donor supply to maintain product availability.”

The approval of Ruconest further expands the therapeutic armamentarium for HAE and will help physicians effectively treat these patients according to Dr Zuraw.

While HAE is a rare disease, the consequences for an individual patient can be devastating, resulting in decreased productivity, substantial morbidity and the risk of mortality, according to Dr Zuraw.

“Untreated or poorly treated HAE also carries substantial costs for the healthcare system,” he said. “Without adequate treatment, many patients require repeated hospitalizations for abdominal attacks. With proper treatment, however, patients are able to live a normal productive life and avoid HAE-related hospitalizations.”

Ruconest is a fully functional C1 inhibitor but is recombinant, explained Dr Zuraw.

“This means that the protein exerts all of the normal functions of C1 inhibitor,” he said. “Because HAE is fundamentally due to a deficiency of C1 inhibitor activity, Ruconest is able to correct all of the underlying pathophysiology. Ruconest is also unique for a C1 inhibitor protein in that production can be scaled up without depending on the blood donor supply.  In theory, sufficient Ruconest can be made available to fill any and all clinical needs. The ability to produce large amounts of Ruconest also allows higher levels of C1 inhibitor replacement, and the efficacy of C1 inhibitor treatment for HAE attacks has been shown to be dose-dependent.”

The safety and efficacy of Ruconest was evaluated in a multicenter controlled clinical trial. Forty-four adult and adolescent patients with acute attacks were treated with Ruconest. Headache, nausea and diarrhea were t most common adverse reactions reported in patients treated with Ruconest.