The US Food and Drug Administration has approved Cerdelga (eliglustat) for the long-term treatment of adult patients with the Type 1 form of Gaucher disease, a rare genetic disorder.

Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. The enzyme deficiency causes fatty materials to collect in the spleen, liver and bone marrow. The major signs of Gaucher disease include liver and spleen enlargement, low red blood cell counts (anemia), low blood platelet counts and bone problems.

Cerdelga is a hard gelatin capsule containing eliglustat that is taken orally. In patients with Gaucher disease Type 1, the drug slows down the production of the fatty materials by inhibiting the metabolic process that forms them. Type 1 Gaucher disease is estimated to affect about 6,000 people in the United States.

“Today’s approval offers another important treatment option for patients with Type 1 Gaucher disease,” said Amy G. Egan, M.D., M.P.H., deputy director of the Office of Drug Evaluation III in FDA’s Center for Drug Evaluation and Research. “In addition, Cerdelga received orphan drug designation from the FDA, reflecting the agency’s focus and commitment to the development of treatments for rare diseases.”

The safety and effectiveness of Cerdelga were evaluated in two clinical trials with 199 participants with Type 1 Gaucher disease.

In one randomised, double-blind, placebo-controlled, multicenter clinical trial the safety and effectiveness of Cerdelga were evaluated in 40 participants with Type 1 Gaucher’s disease who had not previously received enzyme replacement therapy. Subjects received the drug at a starting dose of 42 mg two times a day, with most receiving a dose of 84 mg two times a day after four weeks. Study participants continued the drug for nine months.

Compared to placebo, treatment with Cerdelga resulted in a greater reduction in spleen volume from baseline to the end of the study (by the 39th week), the trial’s primary endpoint. Cerdelga also resulted in greater improvement in liver volume, blood platelet count, and red blood cell (haemoglobin) level, compared to placebo.

The other trial sought to determine the safety and effectiveness of Cerdelga compared to enzyme replacement therapy in 159 participants with Type 1 Gaucher disease previously treated and stabilised on enzyme replacement therapy. Subjects in the trial received either the enzyme replacement therapy drug imiglucerase or Cerdelga. The trial demonstrated that treatment with Cerdelga resulted in similar stabilisation of haemoglobin level, platelet count and spleen and liver volume as imiglucerase.

The most commonly observed side effects in the Cerdelga clinical trials were fatigue, headache, nausea, diarrhoea, back pain, pain in extremities, and upper abdominal pain.Cerdelga is manufactured by Cambridge, Massachusetts-based Genzyme.

The FDA, an agency within the US Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.