Gene therapy is being celebrated as a revolutionary treatment for hereditary swelling disorders. It is being referred to as a “medical magic wand” due to its potential to effectively treat and possibly cure these conditions.
A revolutionary genetic treatment has been praised as a “miraculous cure” for improving the conditions of individuals with a genetic condition that results in painful and potentially deadly swelling.
The participants in the initial human study of the treatment reported a significant enhancement in their symptoms, with several being able to discontinue prolonged medication and resume their regular daily activities.
According to Dr Hilary Longhurst, lead researcher at Te Toka Tumai in Auckland City Hospital, the one-time treatment appears to offer a lasting solution for her patients’ severely debilitating symptoms.
HAE, also known as Hereditary angioedema, is a condition that is not common and impacts approximately one in every 50,000 individuals. It is the result of a genetic mutation that causes leakage in blood vessels, resulting in unpredictable episodes of swelling, usually in areas such as the lips, mouth, throat, bowels, hands, and feet.
Attacks strike as often as twice a week and last from hours to days. People can end up bedridden if the swelling affects the bowel, and its disfiguring effect on the face can stop people leaving the home. The most serious flare-ups affect the throat and can lead to suffocation and death.
Cleveland, a 54-year-old resident of Suffolk, participated in the trial and has been attack-free for the past 18 months thanks to the therapy. He stated, “My physical and mental health have significantly improved. The unpredictability and potential severity of the attacks made it nearly impossible to live my life. I was constantly worried about the next one being severe.”
“The swellings are both physically painful and cosmetically unappealing. I felt self-conscious about leaving my house, fearing a sudden occurrence. I had to be admitted to the hospital due to swellings on my neck and throat, which have impeded my breathing abilities.”
Judy Knox, a registered nurse from New Zealand who was involved in the experiment, described the treatment as a “miraculous medical tool”. Prior to being diagnosed, she experienced prolonged episodes of abdominal swelling accompanied by vomiting and intense pain. After receiving dental treatment, she experienced dangerous swelling in her mouth that posed a risk of suffocation. “This treatment has completely transformed my life,” she stated.
Before, Knox used androgen medication to control her condition, but the supply was not always dependable. Now, she is no longer taking the medication and feels like she has a fresh start.
Hereditary Angioedema (HAE) is the result of a genetic mutation in the C1 inhibitor gene. When this gene malfunctions, it leads to an excess production of a protein called kallikrein. This ultimately causes an accumulation of another protein, bradykinin, which is responsible for the dilation of blood vessels and resulting swelling.
Ten individuals participated in a small initial test in the United Kingdom, New Zealand, and the Netherlands. Each individual was given a “nanolipid” infusion created with Crispr, a gene editing tool that has won a Nobel prize. The purpose of this infusion was to target liver cells and deactivate the kallikrein gene. This treatment prevents the body from producing excessive amounts of bradykinin, resulting in significant improvements for the patients.
Dr. Padmalal Gurugama, a clinical immunology and allergy consultant at Cambridge University Hospital, stated that the treatment is life-changing for patients. One of his patients used to have attacks every three weeks, but in the last 18 months, he has not experienced any. He is no longer taking any medication, which is remarkable.
The initial findings of the initial group of patients have been released in the New England Journal of Medicine, with ongoing larger-scale studies currently in progress. An additional 25 patients have been treated in a phase-two trial by doctors, and plans are in place to enroll participants for a final phase-three trial next year.
Although the outcomes are significant, it is unlikely that the treatment will be accessible in the near future. In addition to successfully completing further trials, one-time gene therapies are extremely costly and not guaranteed to be covered by the NHS.
According to Professor Paul Morgan, an expert in immunology from Cardiff University, the findings are astounding. He believes that they have the potential to provide a permanent cure for HAE with just one treatment. However, further clinical trials on various types of HAE and different populations are necessary to confirm these results.
The latest evaluations have priced single-dose gene therapies at $1 million (£790,000) to $2 million, making them potentially unaffordable for developing countries, according to Morgan. However, this research presents a promising opportunity for finding a cure for certain individuals with HAE.
According to Dr. Michael Tarzi, a senior lecturer and honorary consultant at Brighton and Sussex Medical School, the use of new technology in this application is impressive and has the potential to provide a curative treatment for patients with HAE.