A magic wand for patients: scientists are investigating a new drug to treat a rare hereditary disease

A magic wand for patients: scientists are investigating a new drug to treat a rare hereditary disease


Scientists have used gene therapy to treat angioedema. People with this condition suffer from attacks of swelling that affect areas of the face, throat, intestines and limbs.

As The Guardian reports, the disease is rare and occurs in only one person in 50,000.

What is angioedema?

Researchers say that angioedema is a rare hereditary disease. It is caused by a gene mutation. When the gene stops working in the human body, the protein kallikrein is overproduced. This leads to the accumulation of another protein, bradykinin, which is responsible for the leakage of blood vessels and the formation of edema.

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As a result, there are irregular attacks of swelling, which usually affect the lips, mouth, throat, intestines, hands and feet. They can happen twice a week and last several hours or even days.

People may be bedridden if the swelling affects the bowel. In addition, the disease can disfigure the face. There are more dangerous attacks that affect the throat and can lead to suffocation and death.

What is known about the potential treatment method

Scientists have developed a drug that penetrates liver cells and “kills” the kallikrein protein. The therapy stops excessive production of another bradykinin protein in the body, and this has a positive effect on patients. The results of the study, published in the New England Journal of Medicine, show that ten patients who took part in the trial experienced a significant relief of symptoms after the first dose. Many of them were able to stop long-term treatment and return to normal life.

In particular, a 54-year-old man who participated in the study said that he “feels free after undergoing therapy 18 months ago.”

Edemas are painful and disfigure the body. I was ashamed to go outside in case of an attack. I was hospitalized with swelling in my neck and throat that affected my breathing.” – shared the subject.

Another woman called it a “medical magic wand” after trying the therapy. Before the diagnosis, she suffered from abdominal swelling with vomiting and severe pain that persisted for several days. To cope with this, the woman took antitumor hormonal drugs. Now she stopped using them and felt that she had a “completely new life”.

Professor Paul Morgan, an immunologist at Cardiff University, called the results of the study impressive.

“They demonstrate the potential to permanently cure angioedema with a single course of treatment. Larger clinical trials covering different types of disease in different populations are now needed,” – noted the professor.

Currently, the drug continues to be researched and tested. 25 people participated in the second phase of the clinical trials and they hope to be involved in the third and final phase next year.

It will be recalled that scientists have found a way to treat a rare form of congenital deafness in children.

Vira Shurmakevich, UP. Life

Read also: Great Britain was the first in the world to approve a revolutionary method of treating blood diseases



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