Two gene therapy therapies for sickle cell disease were approved by federal officials on Friday. This is good news for the tens of thousands of people who have the inherited blood ailment, which can lead to severe pain crises and early death.
After years of investigation and approval for treatment for those with uncommon illnesses, sickle cell is the most common disease for which gene therapy has been approved.
Out of the 100,000 Americans with sickle cell disease, only 20,000 or so are expected to have the most severe form of the disease; these people will initially only be eligible for the exceedingly costly medicines.
However, thousands of people whose lives have been dominated by frequent, unpredictable lightning strikes of excruciating agony now have a realistic option thanks to the Food and Drug Administration’s approval. People in Cleveland, Tennessee, such as Jennelle Stephenson.
Stephenson, 33, participated in a clinical trial six years ago and was among the first people to receive sickle cell gene therapy.
Stephenson had lived her life on the edge before the procedure.
Every flight of stairs she took could set off a pain flare that would keep her in the hospital for several days. The distorted blood cells that obstructed her arteries can potentially result in invisible organ damage or perhaps precipitate a crippling stroke.
She was in disbelief for two years following her gene therapy treatment that she would no longer have to deal with such agony crises.
“The shadows or remnants are there, waiting to come out, but it never happened,” she stated. “For 27 years, I lived one way, and all of a sudden I had to retrain my mind and body to live (a different way.”
Not enough time has elapsed for the patients to be considered “cured” of their sickle cell disease, although 95% of recipients—including Stephenson—are symptom-free following gene therapy.
“It’s been one incredible journey of success for me,” she stated.
What is sickle cell disease?
The most severe form of sickle cell illness, also known as sickle cell anemia, is brought on by a genetic abnormality that affects red blood cells’ capacity to carry oxygen to every area of the body.
Because sickled red blood cells are unable to carry oxygen properly, routine activities like climbing stairs, running laps in primary school gym class, or roughhousing with friends might set off a pain crisis.
Another early gene therapy patient, Victoria Gray, spoke of the pain as a shockwave that began in her arm or leg and traveled throughout her body.
The pain that took Gray’s breath away and frequently left her unable to walk or even raise her arms was so intense that not even hot cloths, massages, meditation, or even medication could ease it.
At three months old, Gray, a resident of Forest, Mississippi, experienced her first episode of sickle cell discomfort. During her early youth and early adulthood, she increasingly spent time in hospitals every year.
Although she didn’t know anyone else who had sickle cell disease, she read everything she could about it when she was still in elementary school.
She recently added, “It left me in a lonely place,” during a Zoom conversation with reporters. “All I learned was that I was doomed to die.”
The illness usually claims a person’s life in the United States by the time they are in their early 50s. In sub-Saharan Africa and India, sickle cell disease frequently results in early death since access to treatments and blood transfusions might be problematic or nonexistent.
The medical director of the Comprehensive Sickle Cell Disease Treatment Center at Massachusetts General Hospital in Boston, Dr. Sharl Azar, stated that patients of color are frequently ignored and mistreated and that sickle cell research has received little funding.
Gray and Stephenson both stated that in order to receive basic medical care, they must speak up for themselves. In their desperation for pain relief, they attempt to brush their hair and put on makeup before racing to the hospital in the middle of the night.
According to Azar, he has two patients: one patient of color who wears her college hoodie, and another who brings his white wife along in order to receive more attention and less resistance when he requests strong pain medicine.
“When our patients come to the emergency room, they are frequently treated like criminals,” Azar stated. “I’ve had patients tell me they’d rather bite on a shoe at home than come into the ER and lose their dignity.”
Conclusion
It’s unclear who will be the most suitable candidate for gene therapy or how many patients will sign up for the treatment.
Some will rely on the treatment’s cost and whether private and public insurance will pay for the extras, including housing while under observation. Gene therapy has been known to cost up to $3.5 million for other, less common illnesses.
In order to treat more sickle cell patients in the United States and around the world, Dr. Stuart Orkin of Boston Children’s Hospital thinks that the lessons learned from gene therapy can be used in the development of efficient medicines that are less difficult and costly.
Many scientists are attempting to provide gene therapy using less toxic medications than chemotherapy or to carry out all of the genetic manipulation within the body without the need for specialized laboratories or knowledge.
