As originally reported in CheckOrphan, there’s good news today for adult patients with acute hepatic porphyria, a genetic disorder which causes pain and paralysis. The Food and Drug Administration (FDA) have approved a new treatment option known as Givlaari (givosiran), a medicine which not only treats symptoms, but reduces the likelihood of the painful, characteristic attacks of the disease. Until now, there were no treatment options for the disorder.
Acute hepatic porphyria
Acute hepatic porphyria is a metabolic disorder which interferes with the bodies production of heme, a critical pigment in the hemoglobin which is critical for binding and transporting oxygen through the bloodstream to the cells. Because this disease blocks the heme production, the body accumulates too much of the toxic chemical porphyrin. The buildup of porphyrin interferes with the oxygen transportation, and causes oxygen depletion.
This buildup is responsible for painful ‘porphyria attacks.’ These attacks can be triggered by behaviour such as stress, alcohol, medicines or drugs, infections, low calorie diets, or by internal triggers like hormonal shifts or menstruation. Once triggered, these attacks can cause extreme pain, seizures, paralysis, intense abdominal cramping, respiratory failure, muscles weakness or sensory loss, or even psychological effects like irritability, anxiety, hallucinations, and confusion.
The Novel Drug
Until now, patients have only been able to access treatment that addressed the attacks pain, which are known to be extreme and unrelenting. This new drug however reduces the likelihood of attacks in the first place. Thus it better reduces the diseases impact on life, rather than mediating the symptoms.
The new drug went through clinical trials with 94 patients, and the researchers found the patients who received the drug experienced 70% fewer attacks than those on the placebo. The drug does have side effects, including nausea and reactions on the injection site, and could cause allergic reactions or effect kidney or liver functioning. Patients and doctors are advised to monitor these organs functions. It has received Orphan Drug designation, Breakthrough Therapy designation, and Priority Review designation. The new drug is very exciting for those with the disease who finally have a treatment option.
