Porphyria Cure In The Works, Gene-Editing Treatment Reverses Toxic Protein Buildup

Doctors successfully treated porphyria patients with a gene-silencing treatment that reverses the disease’s adverse effects on the body. They claimed that it could work on other unrelated health conditions by preventing the buildup of toxic proteins.

David Rees, a professor at King’s College London, revealed that he has successfully treated porphyria patients who took part in a clinical trial in the UK. Rees said that the newly developed drug, called givosiran, is an innovative treatment that offers a lot of hope for patients in the future, reported the BBC.

According to the US Food and Drug Administration, gene-silencing, the method used in developing the drug, may work on genetic conditions that cause nerve damage. The same method has been used in treating patients with Huntington’s disease, which has a similar cause as porphyria — a toxic protein destroys brain cells.

Drug developer Barry Greene who is also the president of Alnylam claimed that they are trying to extend their research to lowering cholesterol. Green added that what they created may be a breakthrough medicine.

Givosiran is still being used in clinical trials. The value of the drug for when it becomes available in the market is still unknown. Recent gene therapy for a rare form of blindness, however, was priced at $850,000 for a one-time treatment. Since givosiran involves a similar process, the cost may be close to the blindness medicine.

According to the U.S. National Library of Medicine, porphyria is a rare metabolic disorder involving the heme biosynthetic pathway. Excessive heme production occurs when exposed to a trigger and develops into neurovisceral porphyria. Its symptoms include vomiting, abdominal pain, tachycardia, hyponatremia, hypertension, peripheral neuropathy and other mild mental symptoms. When the disease is on its severe stages, the patient may experience seizures and psychosis.

If porphyria is left untreated, it leads to paralysis, respiratory failure, coma and even death. The usual treatment for the disease involves the reduction of aminolaevulinic acid (ALA) by reducing the activity of aminolevulinate synthase (ALAS) by heme therapy. The breakthrough drug lowers the enzyme involved in heme production and halts the buildup of toxic proteins that make the condition worse.