A CT scan of the human abdomen during HAE swelling – Case courtesy of Frank Gaillard, Radiopaedia.org, rID 16239
CRISPR is at it again: now offering a one-time treatment to eliminate a debilitating genetic disorder known as hereditary angioedema.
Patients involved in the initial human trial have mentioned significant improvements in their health and quality of life, reducing or completely eliminating the painful and potentially life-threatening swelling associated with the condition.
Hereditary angioedema (HAE) is an uncommon genetic disorder affecting approximately 1 in 50,000 people, leading to episodes of painful swelling due to leaky blood vessels. The swelling can occur at any time, sometimes as frequently as twice a week, and can last for hours or even days.
In some cases, the swelling occurs in the throat, requiring hospitalization.
HAE is caused by a mutation in the C1 inhibitor gene, which is responsible for regulating the protein kallikrein, which in turn plays a role in regulating another protein called bradykinin. The malfunction of this three-part interaction results in the leaky blood vessels characteristic of the disease.
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The phase-one human trial was carried out in the UK, Netherlands, and New Zealand, with 10 patients receiving a dose of nanolipids delivered using the Nobel Prize-winning CRISPR gene-editing technology to correct the C1 kallikrein gene.
“I’ve seen a drastic improvement in my physical and mental well-being,” said 54-year-old Cleveland from Suffolk, UK. “The unpredictability and potential severity of the attacks have made it almost impossible to live my life. I have spent my life constantly worrying if my next attack would be severe.”
Another patient described it as effective and comprehensive, like a “medical magic wand,” and expressed a feeling of having “a completely new life.”
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A phase-two trial has already been completed, and the researchers aim to have the data ready for publication next year.
The news comes a few months after the FDA approved the treatment of sickle-cell disease using a CRISPR-derived method, following several trials confirming its safety and effectiveness.
However, these one-time gene therapies are extremely expensive, with this treatment costing as much as a high-end sports car.
Nevertheless, since HAE requires years of continuous medical care, some insurance companies may cover at least a portion of the cost.
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