Recently, we talked with Akshay Vaishnaw, MD, PhD, is Chief Medical Officer at Alnylam Pharmaceuticals about their RNA interference (RNAi) drug, givosiran, that targets aminolevulinic acid synthase 1 (ALAS1) to treat acute hepatic porphyria.

Acute hepatic porphyria is a group of rare, genetic diseases that results in the accumulation of neurotoxic heme intermediates aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver. Common symptoms include severe, diffuse abdominal pain, weakness, nausea, and fatigue. Long-term complications of acute hepatic porphyria can include chronic neuropathic pain, hypertension, chronic kidney disease and liver disease, and hepatocellular carcinoma.

Acute attacks can be very deliberating. Dr. Vaishnaw said, “It is worth dwelling on just how terrible the disease it is because periodically, these patients will get an attack. In the most affected patients, the attacks can be as often as once a month – often in connection with a monthly cycle – women in their 20 to 40 or 50 years of age. They are rendered with a very poor quality of life where the attacks give them severe abdominal pain, neuropsychiatric features, and also damage to the liver and kidneys.” Dr Vaishnaw added that many of these patients end up hospitalized and require inpatient care to treat the attacks.

Fortunately, clinical trial data with givosiran is showing promise in dramatically helping people with acute hepatic porphyria.

“We have just recently finished the phase 3 study of givosiran in acute hepatic porphyrias and we have over 70% reduction in attacks,” noted Dr. Vaishnaw.

The company plans to submit the date to the Food and Drug Administration to hopefully gain approval by early 2020.

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