Gene replacement could replace need for life-long blood transfusions

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From the lab to the bedside – a breakthrough treatment makes its way to patients suffering with a devastating disease … one that requires life-long blood transfusions.

Wanda Sihanath, gene therapy patient: “Pretty familiar, it’s just nice to see familiar faces.”

It’s a familiar walk for the 19-year-old. Every month since the age of 14, Wanda Sihanath has come to the hospital for blood transfusions.

Wanda Sihanath: “I adjusted to it pretty quickly.”

Wanda was born with thalassemia. She was missing a critical component in her blood -- hemoglobin.

Dr Alexis Thompson, Lurie Children’s hematologist: “We can replace it with transfusions, and most children who are born with thalassemia start transfusions before one year of age and need them every three or four weeks for a lifetime. Hemoglobin is vitally important. It’s the primary substance inside our red blood cells that helps to carry oxygen, and so if you don’t have enough hemoglobin you don’t grow very well, you’re constantly tired, eventually you’ll develop heart failure and liver problems.”

The inherited blood disorder is caused by a faulty gene.

Dr Thompson: “Until now the only way to look at a curative option was a bone marrow transplant, but it was not without risk and significant risk.”

But Wanda’s monthly transfusions stopped in April when she was one of the first patients to receive a new gene replacement therapy.

Dr Thompson: “The ability to just simply replace what is broken but to leave everything else in place is what gene replacement therapy is meant to do. In the lab we introduce a normal beta globin gene into their stem cells. Once it’s there and we know its functioning, those cells are frozen. They’re given their cells back and if all goes well in a short period of time, their own cells will begin making beta globin for the very first time.”

No longer tethered to regular transfusions, Wanda has been free to pursue the next chapter in her life.

Wanda Sihanath: “I’m majoring in biomedical engineering. I wanted to go far away. If I had the chance to not be on transfusions anymore it would give me the opportunity to travel.”

Dr Thompson: “We are very encouraged by these early results. The patients we’ve done here at Lurie Children’s are out less than one year, but each time we’ve checked them they’re making more and more hemoglobin.”

Most patients can discontinue blood transfusions about three months after undergoing gene replacement therapy. The current treatment is safer than earlier versions, which carried a greater risk of blood cancer.

More info:

http://www.northstarstudy.com/

https://www.clinicaltrials.gov/ct2/show/NCT01745120?term=NCT01745120&rank=1

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8 comments

  • sasmita swain

    My son who is now 2 years old is thalassemia major.it was detected at his exact age of 1year old.I am from India,is it possible for my son to go through this therapy.and whats the treatment cost!

  • JoJo

    thank God, my nephew has Thall and I want his life to be normal and pain free,it is my biggest wish for him and his parents and family, we love him so very much and want him around for a very, very long time!!!

  • Gurpreet Singh

    My son who is now 1.5 years old is thalassemia major.it was detected at his exact age of 6 month old.I am from India,is it possible for my son to go through this therapy.and whats the treatment cost.