How gene therapy transformed the lives of sickle cell patients

Their hope: to raise awareness of these gene therapies, which have just been authorized by the American health authorities, so that others can use them.

But their exorbitant cost — up to $3.1 million per person — could limit access.

Prejudices

Tesha Samuels was born in 1982, just before the start of newborn screenings for sickle cell anemia, a genetic disease that affects approximately 100,000 people in the United States and 20 million worldwide. It mainly affects black people. One reason, scientists say, is that sickle cell trait protects against malaria.

Patients with sickle cell disease have a mutation that affects hemoglobin — an oxygen-carrying protein in red blood cells. The red blood cells then take on a sickle shape, restricting blood flow and oxygen delivery.

The possible consequences are dramatic: anemia, pain attacks, organ damage and premature death.

Tesha Samuels was diagnosed at age two. At seven, she suffered a dangerous attack of anemia, and at 13, a stroke forced her to have monthly blood transfusions. According to her, the “prejudices about black children going to the hospital to say they are in pain” made him wait until things got out of hand before acting.

As a young adult, she lost a friend, “a sickle cell warrior,” who often ended up at the same hospital as her.

She studies at the prestigious Howard University, hopes to become a doctor, but has to drop out because of her illness. “You come back to your dreams“, she says.

As a newlywed, she needs eight hours of infusions every night.

“Come back to life”

In 2018, her life took a new turn: she became one of the first to receive a then experimental treatment.

Now marketed as Lyfgenia, it uses a harmless virus to carry a healthy version of the gene that produces hemoglobin into cells.

Doctors first collect the patient’s stem cells. Then comes the difficult part: chemotherapy removes the stem cells from the patient’s spinal cord, to make way for the modified cells.

Tesha Samuels loses her hair, and is hospitalized with a nosebleed that lasts 16 hours. His blood platelets take months to return to normal.

Then she regains her energy. “It’s like coming back to life“, she says. “You have a new life ahead of you. What to do with it?”

She resumed her studies and obtained her diploma. And created an organization, “Journey to ExSCellence,” to raise awareness of the treatment among the African-American population.

Each patient who participated in the clinical trial will, like her, be followed for 15 years.

Years of struggle

Jimi Olaghere, 38, has a similar background.

His first memory of his illness dates back to when he was eight years old. When he plays soccer in Nigeria, his native country, he has to stop every five minutes to rest and drink. “I asked my mother, why am I different?“, he recalls.

His parents sent him to live with an aunt in New Jersey, USA, where health care was better, but his childhood remained a struggle.

He fails to complete his studies, has to have his gallbladder removed, and has a heart attack. At his worst, he spends 80% of his time in bed. Moving to Atlanta, where it’s warmer, helps — as it does for many sickle cell patients.

Then, in 2019, he heard about a clinical trial using the Crispr molecular scissors. After registering, he receives a “magic” message announcing that he is accepted.

Thanks to the modified stem cells he receives with this treatment, named Casgevy, Jimi Olaghere “now living a dream“. He has three children, thanks to in vitro fertilization (IVF), and manages several small businesses. He also seeks to popularize this treatment, particularly in Africa, where access to it still seems a distant dream.

For John Tisdale of the American Institutes of Health (NIH), who led the trial in which Tesha Samuels participated, the next step is to make the treatment less burdensome for patients — and less expensive.

Uncertainty remains regarding the coverage of these gene therapies by private health insurance. But Medicaid, a public program, has announced that it will cover them starting next year.