Acute porphyria is a set of the uncommon diseases that might be the reason for paralysis, vomiting, nausea and life-threatening attacks of abdominal pain. Currently, the most significant treatment present for severely affected patients is liver transplantation. In Sweden, at Karolinska Institute, a clinical trial was held by associating with researchers are demonstrating that candidate of new drug helps in preventing the attacks of acute porphyria patients and in The New England Journal of Medicine study was published.

Porphyria is triggered by various genetic diseases in heme synthesis that is the oxygen-binding constituent of red blood cells. Heme is very important for the absorption of specific drugs and hormones by the liver. When the liver is not having the ability to synthesize heme properly, hazardous substances like metabolites of porphyrin are mounting in the body, which results in the attacks of acute porphyria. Group of the patients suffering from attacks of acute porphyria that causes chronic symptoms needing immediate hospital care.

Acute porphyria is the common type of Acute Intermittent Porphyria (AIP). Patients suffering from the attacks of acute porphyria are treated with the help of infusion comprising of a type of heme called hemin that overpowers the development of toxic metabolites.

Eliane Sardh, Scientist at Department of Molecular Medicine and Surgery, Karolinska Institute and counselor at Karolinska University Hospital commented that “Hemin has saved the lives of several patients and endure to be important, but only for treatment of acute porphyria”. “For the patients suffering from recurrent attacks, except liver transplantation there is no treatment available”.

On the other hand, Givosiran the new drug candidate, established by Alnylam Pharmaceuticals, are demonstrating the results of the clinical phase 1 study in about 40 patients. The research was held in long-standing, close partnership with Porphyria Center Sweden has provided the majority of patients.

Supervision of givosiran decreased several acute attacks in patients by about 80%, and the requirement for hemin was decreased by about 83%. Many of the testified side effects were moderate or mild, and no link was detected between the dose and adverse reactions. Serious adverse reactions were observed in six patients, involving one death that was considered unrelated to givosiran.

The drug candidate is depending on the natural method of preventing gene expression known as RNA interference (RNAi).

Dr. Sardh claims that “Givosiran is down-regulating ALAS1, key controller of hepatic heme synthesis pathway that decreases hazardous metabolites lacking the usage of hemin”.

Breakthrough Designation and PRIME was given to drug candidate by U.S Food and Drug Administration and European Medicines Agency for fast-moving review process can conclude that the drug will be available in the coming years. The study of the research and designing was organized by Karolinska Institute, Karolinska University Hospital, Porphyria Centre Sweden, King’s College Hospital, Icahn School of Medicine at Mount Sinai, University of California, University of Texas Medical Branch and Wake Forest University.