Sickle Cell Awareness Thread: Sickle Cell Awareness Month 2023! UPDATE: FDA APPROVES GENE THERAPY
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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
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.
Victoria Gray on her infusion day during a gene editing trial for sickle cell disease at the Sarah Cannon Research Institute and The Children's Hospital At TriStar Centennial in Nashville, Tenn., in July 2019.Anthem Pictures / Sarah Cannon Research Institute / via AP
Dec. 7, 2020, 11:12 AM EST
By The Associated Press
Scientists are seeing promising early results from the first studies testing gene editing for painful, inherited blood disorders that plague millions worldwide, especially Black people.
Doctors hope the one-time treatment, which involves permanently altering DNA in blood cells with a tool called CRISPR, may treat and possibly cure sickle cell disease and beta thalassemia.
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.
Victoria Gray, the first patient in the sickle cell study, had long suffered severe pain bouts that often sent her to the hospital.
“I had aching pains, sharp pains, burning pains, you name it. That’s all I’ve known my entire life,” said Gray, 35, who lives in Forest, Mississippi. “I was hurting everywhere my blood flowed.”
Since her treatment a year ago, Gray has weaned herself from pain medications she depended on to manage her symptoms.
“It’s something I prayed for my whole life,” she said. “I pray everyone has the same results I did.”
Sickle cell affects millions, mostly Black people. Beta thalassemia strikes about one in 100,000 people. The only cure now is a bone marrow transplant from a closely matched donor without the disease like a sibling, which most people don’t have.
Both diseases involve mutations in a gene for hemoglobin, the substance in red blood cells that carries oxygen throughout the body.
In sickle cell, defective hemoglobin leads to deformed, crescent-shaped blood cells that don’t carry oxygen well. They can stick together and clog small vessels, causing pain, organ damage and strokes.
Those with beta thalassemia don’t have enough normal hemoglobin, and suffer anemia, fatigue, shortness of breath and other symptoms. Severe cases require transfusions every two to five weeks.
The treatment studied attacks the problem at its genetic roots.
In the womb, fetuses make a special type of hemoglobin. After birth, when babies breathe on their own, a gene is activated that instructs cells to switch and make an adult form of hemoglobin instead. The adult hemoglobin is what’s defective in people with one of these diseases. The CRISPR editing aims to cut out the switching gene.
“What we are doing is turning that switch back off and making the cells think they are back in utero, basically,” so they make fetal hemoglobin again, said one study leader, Dr. Haydar Frangoul of the Sarah Cannon Research Institute in Nashville.
The treatment involves removing stem cells from the patient’s blood, then using CRISPR in a lab to knock out the switching gene. Patients are given strong medicines to kill off their other, flawed blood-producing cells. Then they are given back their own lab-altered stem cells.
Saturday’s results were on the first 10 patients, seven with beta thalassemia and three with sickle cell. The two studies in Europe and the United States are ongoing and will enroll 45 patients each.
Tests so far suggest the gene editing is working as desired with no unintended effects, Frangoul said.
“The preliminary results are extremely encouraging,” he said.
The study was sponsored by the therapy’s makers — CRISPR Therapeutics, with headquarters in Zug, Switzerland, and Massachusetts-based Vertex Pharmaceuticals. Some study leaders consult for the companies.
Separately, Dr. David Williams of Harvard-affiliated Boston Children’s Hospital gave partial results from a study testing a novel type of gene therapy that also seeks to restore fetal hemoglobin production for those with sickle cell.
Six patients including one as young as 7 were given the treatment, in which some of their blood stem cells were removed and altered in the lab to muffle the hemoglobin switching gene. None have had pain crises, five of the six no longer need transfusions and all have near-normal hemoglobin, he reported at the conference and in the medical journal.
Government grants paid for the work. Williams is named on a patent for the therapy, which Boston Children’s has licensed to Bluebird Bio Inc. of Cambridge, Massachusetts. The company provided the therapy for the study, which will enroll 10 people in all to establish safety. A larger study to test effectiveness is planned.
Williams, who was not involved in Frangoul’s study, said it “validates this approach” of targeting the hemoglobin switching gene to tackle sickle cell.
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.
Now that we're in the right thread...what do you think about this? What do you think are the negatives of this? Admittedly, i dont know enough about Sickle Cell but I know it can be painful for people that have it..
Its complicated
but real quick before safety etc?
Is the cost and availability...
especially concerning an ailment that has been associated PRIMARILY with Black folk.
I'll be back later to go in.
Prayers go out to you and family.
We got a small community on here who is dealing with the same situations at various stages.
You not alone, feel free to communicate if and when you need to.
your a good parent and all the best to your son.
Thank you good sir. For everyone on the board dealing with it please make sure you are actively engaged with your Hematologist, and make sure they are telling you about new drugs on the market (Endari, Oxbryta). Blood Transfusions are also important to maintain as well. I will also do my best to provide info to the board
100% ^^^^^^^
Does he have SS or SC?
He has SS he is 4 now. Thankfully he doesn't mind taking medicine we started the treatment since he was 6 Months
OK I asked because both my kids have SC.
We gave my daughter PenVK since she was a baby til about 4 I stopped cause she always looked, don't know how to describe it, but "sick". Took her off it and she was much better.
Years later my son was born, they are 9 yrs apart. And we never gave it to him.
My daughter has been in the hosp numerous times. Had her first transfusion about 15.
Been in and out about 1-2 times a year.
My son only been in the hosp once in his life. Has had nothing major. Just some pain, barely noticeable to even take anything. Just aches in his legs. He's 16.
My daughter 25.
Just to let you know. My kids are different because they have the lighter form of it, SC, but just want to say as well, diet plays a major factor in their health. Major.
We used to eat more fast food in our younger years as parents. Now eat healthier choices which could attribute to my son doing much better.
I definitely agree with you diet does play a major factor and everything in terms of treatment is not one size fits all.
I think the Hydroxyurea my son takes plays a bigger factor than the PenVK.
I would also add that we force our son to drink a lot of water as well. Hydration is one of the things our Hematologist stressed to us
Yep try to avoid sugary stuff.
And one of the factors of why I left NY, assuming you're there by your name, was a warmer environment is less stress on their bodies. I moved to Texas. The warmer weather helps a lot. Something to consider over time.
Also as he starts school, get him enrolled in the 504 Program. It's in every school. Will allot him extra time on tests and conveniences like water and bathroom breaks whenever he wants.
Funny enough we moved to the Chicago area for work and family reasons, but I told my wife we are moving to Texas or ATL somewhere in the future for his benefit.
I am happy to hear your son is doing well, and I will definitely look to see if they have a similar 504 program in our district
Yea I told my wife that the family is moving to more of a warmer climate. These Chicago winters are harsh. It seems like my daughter either has to be hospitalized or have a transfusion on or very close to her bday in Feb. Which is coming up.
It's a govt program countrywide.
Could Your Child Benefit From a 504 Plan?
A 504 plan is designed to help disabled students learn in the classroom environment. Find out what goes into one and how it may help your child.
Also don't dismiss trying to get him into Social Security Disability if he does get frequent hospitalizations as he gets older. Hope that doesn't happen. My kids weren't eligible as they aren't in the hosp "admitted" more than 3x a year. Food for thought.
Hope I am not getting too personal when I ask this but is your daughter with the UIC or Lurie's Sickle Cell Program?
Nah the University of Chicago/LaRabida Children Hospital. I love LaRabida. They hooked up my daughter to sing the national anthem for a Chicago Sky game and she went into the Sky locker room and had one on one time with Candace Parker (when she was with the Sparks). But my baby loved every minute of it.
Interesting we were considering LaRabida too but distance-wise it made sense to do Lurie's, which has been great for our son.
Happy to hear they are taking good care of your child.