First gene-editing therapy could cure disease

The first gene-editing treatment is set to be offered on the NHS in a “revolutionary breakthrough” for patients.

It will be used as a potential treatment for beta thalassemia, a blood disorder.

Blood-producing stem cells are extracted, reprogrammed to improve the patient's condition, and then returned to the patient.

This could potentially eliminate the need for lifelong blood transfusions every three to five weeks.

People with beta thalassemia have trouble producing enough hemoglobin, the protein in red blood cells that carries oxygen around the body.

It is a genetic disease that is passed down through families and is caused by a defect in the body's instructions for making hemoglobin.

It causes severe fatigue, weakness, shortness of breath and shortens lifespan.

Kirtana Balachandran, 21, was diagnosed at three months old and sometimes experiences muscle pain, back pain and palpitations when walking uphill.

“The idea of ​​literally being dependent on blood transfusions for the rest of my life is daunting and I'm constantly worried about the future,” she says.

The idea of ​​gene editing is that it only needs to be done once.

It uses a tool called Crispr, which won the Nobel Prize in Chemistry in 2020. It's essentially like a navigation system connected to scissors, with one part targeting the right part of the DNA and the other carrying out the edit.

You might think this technology is being used to fix genetic defects, but it's actually something cuter than that.

Instead, it relies on the fact that different types of hemoglobin are produced in the body before and after birth.

When we're still in the womb, our bodies use “fetal hemoglobin” to draw oxygen from our mother's bloodstream.

When we are born, a genetic switch is flipped and we begin producing “adult hemoglobin.”

Importantly, only the adult type of hemoglobin is affected by beta-thalassemia.

So this treatment disables a switch called BCL11A, causing the adult body to start making fetal hemoglobin again.

To achieve this, stem cells that produce red blood cells within the spongy bone marrow are harvested.

These cells are sent to a laboratory where they are subject to a gene switch.

The next step is an unpleasant one: chemotherapy is required to kill the old stem cells that were producing the broken hemoglobin, then transplant the new stem cells.

Abdul Qadir Akhtar, 28, from Hemel Hempstead, took part in the clinical trial in 2020.

He said the treatment was “difficult” and “tough,” but that he was “healthier and more active” since undergoing it.

“[I] I've also taken up boxing and can now travel more freely, which is great and I want to enjoy life to the fullest.”

The data shows Of the 52 patients who received this treatment, 49 did not require a repeat blood transfusion during at least one year of monitoring. Because this treatment is so new, the long-term effects are still unknown.

“Gene therapy could improve the chances of a cure and eliminate the need for blood transfusions every three weeks,” Kirtana says.

“It will be a life-changing treatment.”

The medicines watchdog, the National Institute for Health and Care Excellence, approved the treatment after assessing the costs and benefits of so-called “potential treatments.”

The deal will see NHS England pay less than the official price of £1.6 million per patient.

It is estimated that 460 people aged 12 and over who wish to receive the treatment will be eligible, and it is due to be made available at seven specialist centres within the coming weeks.

NHS chief executive Amanda Pritchard said: “This is a historic moment for people living with beta thalassemia as a potential treatment for those suffering from this debilitating disease is now available on the NHS.

Beta thalassemia mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin.

Previously, the only alternative to blood transfusions was stem cell transplantation, but this was rare as it required a very close tissue match from the donor.

Casgevy, developed by Vertex, is the first approved treatment using Crispr technology.

“We are on the verge of a revolutionary breakthrough,” said Romaine Maharaj, general secretary of the British Mediterranean Anaemia Society. “This is a ray of hope.”

Negotiations are still underway over whether the same treatment could be made available on the NHS for sickle cell anaemia, another genetic condition that affects haemoglobin.