# Good News: A Year In, 1st Patient To Get Gene Editing For Sickle Cell Disease Is Thriving



## Leeda.the.Paladin (Jun 24, 2020)

*A Year In, 1st Patient To Get Gene Editing For Sickle Cell Disease Is Thriving*
June 23, 20205:04 AM ET
Heard on  Morning Edition

ROB STEIN

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Victoria Gray, who underwent a landmark treatment for sickle cell disease last year, has been at home in Forest, Miss., with her three kids, Jadasia Wash (left), Jamarius Wash (second from left) and Jaden Wash.

Victoria Gray
Like millions of other Americans, Victoria Gray has been sheltering at home with her children as the U.S. struggles through a deadly pandemic, and as protests over police violence have erupted across the country.

But Gray is not like any other American. She's the first person with a genetic disorder to get treated in the United States with the revolutionary gene-editing technique called CRISPR.

And as the one-year anniversary of her landmark treatment approaches, Gray has just received good news: The billions of genetically modified cells doctors infused into her body clearly appear to be alleviating virtually all the complications of her disorder, sickle cell disease.

"It's wonderful. It's the change I've been waiting on my whole life," Gray told NPR, which has had exclusive access to chronicle her experience over the past year.

Sickle cell disease, a rare blood disorder that disproportionately affects African Americans in the U.S., can be difficult to treat effectively.




*SHOTS - HEALTH NEWS *
*A Young Mississippi Woman's Journey Through A Pioneering Gene-Editing Experiment*
The last time NPR spoke with Gray — in November — her doctors had just gotten the first hints the treatment might be working. Now, after nine months of careful testing, the treatment shows no signs of waning, making her doctors more confident than ever the experiment has been a success.

"It's hard to put into words the joy that I feel — being grateful for a change this big. It's been amazing," said Gray, 34, who lives in Forest, Miss.

In many ways, it's a change that came just in time, Gray said. In the fall, the National Guard deployed her husband to Washington. And then, the coronavirus pandemic triggered a national lockdown. Gray was suddenly home alone with three of her kids. 

Her great-aunt as well as the pastor of her childhood church died of COVID-19. Friends at her current church have been getting sick. 

And then George Floyd was killed by police in Minnesota.

"I feel like everything happened so fast," she said. "It hasn't been easy."

If she hadn't had the treatment, Gray said she doesn't know how she'd be coping. She would have been too weak to care for her children and probably would have been hospitalized at a time when hospitals feel especially unsafe.

"Since my treatment I've been able to do everything for myself, everything for my kids. And so it's been joy not only for me but for the people around me that's in my life," she said.

The promise of a cure

The researchers conducting the study Gray started caution that it's too soon to reach any firm conclusions about the long-term safety and effectiveness of the approach. Gray is just one patient who has been followed for what is still a relatively short period of time, they noted.

But Gray's experience so far, along with two other patients who received the same treatment for a similar disorder, indicate the therapy has been effective for her and may work for other patients as well, they said.

"To have it work in this way is extremely thrilling to see and extremely exciting," said Dr. Haydar Frangoul of the Sarah Cannon Research Institute in Nashville, Tenn., who is treating Gray.

At a meeting of the European Hematology Association on June 12, Frangoul and other researchers presented the latest results of their latest testing of Gray as well as two study subjects with a related condition, beta thalassemia. The latter also appear to be benefiting.

"It's very exciting," said Dr. David Altshuler, chief scientific officer at Vertex Pharmaceuticals in Boston, which is developing the treatment with CRISPR Therapeutics in Cambridge, Mass. "Patients and families have been waiting a very long time for a highly effective therapy."

The companies also revealed that a second sickle cell patient had been treated as part of their research program along with three other beta thalassemia patients.

The promising results are also encouraging other doctors and researchers, who hope CRISPR may also lead to new treatments for many diseases. Studies have already tested CRISPR to treat cancer and a rare genetic condition that causes blindness. CRISPR enables scientists to make changes in DNA much more easily than before.

"I think this is a huge leap for the medical field," Frangoul told NPR in an interview.






Dr. Haydar Frangoul met with Gray in June to discuss the results of her latest tests. Gray hasn't had any of the severe pain attacks she used to experience since receiving infusions of genetically altered cells nearly a year ago.

Amanda Stults/Sarah Cannon/TriStar Centennial
How the treatment works

Sickle cell disease is caused by a genetic mutation that produces a defective form of hemoglobin, a protein needed by red blood cells to nourish the body with oxygen. The defective hemoglobin turns red blood cells into deformed, sickle-shaped cells that get jammed inside blood vessels, causing excruciating attacks of pain, organ damage and often premature death.

"Before the treatment, it would be so bad it would be crippling," Gray said of her pain crises.

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."


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## Chicoro (Jun 24, 2020)

YES!

Had a friend pass away who passed away. We were both freshman at the university. It's a painful disease. What a blessing this is!


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## sunshinebeautiful (Jun 24, 2020)

This is fantastic news.


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## RUBY (Jun 24, 2020)

This is amazing news. Sickle cell runs in my family so this is something that is close to my heart. I hope one day, no one suffers from this disease.


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## Ganjababy (Jun 25, 2020)

Finally some good news! This made my day. Too many black people are suffering. I hate to see how they are sometimes treated by the medical profession. Especially regarding their pain management.


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## Leeda.the.Paladin (Jun 25, 2020)

Ganjababy said:


> Finally some good news! This made my day. Too many black people are suffering. I hate to see how they are sometimes treated by the medical profession. Especially regarding their pain management.


I am proud of my state for its response to sickle cell. A few years back, they opened a clinic just for sickle cell patients to get fast pain relief. It’s also staffed by a lot of black health care workers. There are also a lot of sickle cell related studies in our state.


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## Kookookiwi (Jun 25, 2020)

What wonderful news! I needed this today.

Thank you for sharing!


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## Ganjababy (Jun 25, 2020)

This is great. 





Leeda.the.Paladin said:


> I am proud of my state for its response to sickle cell. A few years back, they opened a clinic just for sickle cell patients to get fast pain relief. It’s also staffed by a lot of black health care workers. There are also a lot of sickle cell related studies in our state.


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## Misseyl (Jun 25, 2020)

Terrible disease, my niece suffers from it and it dictates every aspect of her life.  Glad to know they are making progress in this area.


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## HappyAtLast (Dec 9, 2020)

Update. This is such great news! I know too many people suffering or died from this.


Spoiler: Article












						Gene-editing treatment shows promise for sickle cell disease
					

“I pray everyone has the same results I did," said the first patient in the sickle cell study who suffered from severe pains that often sent her to the hospital.




					www.nbcnews.com
				









> Partial results were presented Saturday at an American Society of Hematology conference and some were published by the New England Journal of Medicine.
> 
> Doctors described 10 patients who are at least several months removed from their treatment. All no longer need regular blood transfusions and are free from pain crises that plagued their lives before.


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## RUBY (Dec 9, 2020)

HappyAtLast said:


> Update. This is such great news! I know too many people suffering or died from this.
> 
> 
> Spoiler: Article
> ...



Definitely good news. Was a bit afraid that Corona Virus was gonna overshadow everything else and funding would be pulled from other things. Glad there was a follow up on this and the patients are thriving.


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## Transformer (Dec 9, 2020)

The very best wishes to her.  A very close childhood friend died of sickle cell at the age of 26.  She had a long and tortured  battle.  I wonder if this lady's kids inherited the disease?  I have another friend that never had kids do to her disease.  Her husband died recently unexpectantly and she voiced regret that they never had kids.


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## GGsKin (Dec 9, 2020)

This news is uplifting. Sickle cell has effected a few of my relatives. One of my uncles died at 42 from sickle cell, and one of my brothers also has this disease. Unfortunately, he's had so many severe crises and a fair amount of transfusions in his time, that I didn't realise you could have sickle cell and not have a crisis for years.


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