1st Patient To Get Gene Editing For Sickle Cell Disease -NPR News

For the experimental treatment, scientists remove cells from patients' bone marrow and use CRISPR to edit a gene, which enables the cells to produce a protein known as fetal hemoglobin. Fetal hemoglobin is made by fetuses in the womb to get oxygen from their mothers' blood but usually stops being produced shortly after birth.

The hope was that restoring production of fetal hemoglobin would compensate for the defective hemoglobin produced by sickle cell patients. Beta thalassemia patients don't have enough hemoglobin.

Scientists had hoped that after the treatment, which Gray received July 2, 2019, at least 20% of the hemoglobin in her system would be fetal hemoglobin.

Blood tests so far have shown the levels far exceeded that. About 46% of the hemoglobin in Gray's system continues to be fetal hemoglobin, the researchers reported. In addition, fetal hemoglobin has remained present in 99.7% of her red blood cells, they reported.

Another promising finding is that a biopsy of Gray's bone marrow cells found more than 81% of the cells contained the intended genetic change needed to produce fetal hemoglobin, indicating the edited cells were continuing to survive and function in her body for a sustained period.

The researchers also reported that the first patient to receive the same treatment for beta thalassemia in Germany has now been able to live without blood transfusions for 15 months. Previously, the researchers had reported data for that patient for nine months. In addition, four other beta thalassemia patients have been treated, including one who has been transfusion-free for five months, the researchers reported.

While Gray and the beta thalassemia patients experienced some health complications following their procedures, none appears to have been due to the gene-edited cells and all recovered, according to the researchers.

"A huge change"

Perhaps most importantly, the changes appear to have translated into significant health benefits for Gray. She hasn't had any severe pain attacks since the treatment and hasn't required any emergency room treatments, hospitalizations or blood transfusions.

In each of the previous two years, Gray had required an average of seven hospitalizations and emergency room visits due to severe pain episodes as well as requiring regular blood transfusions. She has also been able to reduce significantly her need for powerful narcotics to alleviate her pain.

"It's a very big deal for me," Gray said. "It's a huge change."

Having her strength back has allowed her to parent through the several tumultuous months of lockdowns and more recently weeks of anti-racism protests. This includes trying to help her children understand everything happening in the world around them, especially the reports of police violence.

"That's been one of the hardest things for me. It's heartbreaking for me," she said.

But thanks to her treatment, she said she's hopeful for things she thought she'd never get to see as a parent.

"High school graduations, college graduations, weddings, grandkids — I thought I wouldn't see none of that," Gray said.

"Now I'll be there to help my daughters pick out their wedding dresses. And we'll be able to take family vacations," she says. "And they'll have their mom every step of the way."

And Gray said she hopes her story will give other people hope, too.

"We need this right now more than ever, you know? It's a blessing," she said. "It gave me hope when I was losing it. So I feel joy, you know, knowing that there is hope."

Heard on Morning Edition -Rob Stein