Mercy has been living with sickle cell disease for more than 30 years now. She notes that the journey has not been an easy one due to the adverse effects of the disease that affect her from time to time.
“This is a disease you are born with. And in my case, I got it through my parents who were both carriers of the genes that cause the condition. So, the disease has been a reality for me since I was a young girl,” she states.
According to Mercy, now and then, she has to dig into her pockets to meet medical bills and expenses required for managing her condition.
“At least I am working and can afford to manage the disease well. I know of many who have succumbed to the disease and died as they could not afford the necessary care required,” she says.
Most people have healthy red blood cells, which are round in shape. These usually enable the cells to move easily through small blood vessels while carrying oxygen to different parts of the body.
But for people with sickle cell disease, their red blood cells usually look like a C-shaped farm tool called a sickle.
These cells, which are hard and sticky, struggle to move through small vessels and usually get stuck hence clogging the blood flow.
This often causes sudden pain (sickle crisis), especially in joints and other serious problems such as frequent infections, delayed growth and organ failure.
Those with the disease usually struggle with it throughout their life. They usually rely on painkillers, blood transfusions, vaccinations and antibiotics, among other drugs, to prevent or manage complications related to the disease.
Currently, the proven intervention that has been known to cure some people with the disease is a bone marrow transplant. But the success of this procedure is largely dependent on the availability of a compatible donor that may be hard to come by.
A new study published in the New England Journal of Medicine highlights a novel approach that can address this challenge by enabling people with the disease to get a cure for their condition using their own bone marrow.
This new approach uses a technology known as gene therapy to train the bone marrow of people with the disease to stop producing the faulty sickle-shaped blood cells and begin making the healthy ones with the normal round shape.
According to the study, a single dose of the therapy can restore blood cells to their normal shape and eliminate the most serious complications of sickle cell disease for at least three years in patients.
This new study is the first to report on the long-term effects of sickle cell gene therapy and its impact on those living with the condition.
The novel gene therapy, known as LentiGlobin, was tested on 35 adults and adolescents with sickle cell disease. It not only corrected the shape of the patient’s red blood cells but also eliminated episodes of severe pain caused when rigid, sickled-shaped red blood cells clump together and block blood vessels. These painful episodes can result in widespread organ damage.
They are also a frequent cause of hospitalisations and can lead to early death among people living with sickle cell disease.
“You cannot overstate the potential impact of this new therapy. People with sickle cell disease live in constant fear of the next pain crisis. This treatment could give people with this disease their life back,” stated Dr Markus Mapara, an author of the study and professor of medicine at the US-based Columbia University.
“We hope this therapy will also be successful in younger patients so they can grow up without experiencing pain crises and live longer.”
“The effects of this gene therapy have been sustained throughout the research trial period, which suggests that the results may be durable,” said Dr Mapara, who is also the director of the Bone Marrow Transplantation and Cell Therapy Programme at the New York-Presbyterian/Columbia University Irving Medical Centre.
He further noted that since the LentiGlobin therapy uses a patient’s stem cells, there is no risk of rejection, which is usually a common complication of conventional bone marrow transplants.
Nevertheless, the study indicated that one limitation of the new gene therapy is that patients must first be treated with high-dose chemotherapy to eliminate old stem cells in their bone marrow and make room for the modified stem cells that will begin making healthy red blood cells.
This process, known as conditioning chemotherapy, can be toxic and is associated with a small risk of cancer. Researchers are currently working on less toxic alternatives.
“The eventual goal will be to give this treatment as early as possible, well before patients develop organ damage and other complications of sickle cell disease.
“But before we can do this, we need to find a safer alternative to chemotherapy for conditioning strategies, such as antibodies,” said Dr Mapara.
The new study is titled ‘Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease Gene Therapy’.
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