An international research team from the Great Ormond Street Hospital (GOSH) and the UCLA developed a promising gene therapy which treated 48 out of 50 kids with a form of serious immunodeficiency that practically leaves them without an immunity.
Caused by adenosine deaminase deficiency, also known as ADA-SCID, is a rare and life-threatening illness which takes away children’s ability to live a normal life.
A Promising Gene Therapy for Kids with Severe Immunodeficiency
This disease is a result of gene mutations which create the adenosine deaminase enzyme which is pivotal for a strong immunity.
These children have no immunity and when it’s left untreated, it can be fatal within the first two years of life. For these kids, daily activities like going to school or playtime with friends may cause a dangerous infection.
Efforts are being made to help these children, including a new-born screening for SCID added in some countries to encourage early diagnosis.
The new study, published in the New England Journal of Medicine, was co-led by Professor Donald Kohn from UCLA and Doctor Claire Booth from GOSH.
They reported their two-to-three-year outcomes from the 50 children whom they treated in clinical trials with the experimental stem cell gene therapy between the years of 2012 and 2017.
For the purposes of this gene therapy, some of the blood-forming stem cells are taken from a patient. Then, a viral vector is used to make a new copy of the ADA gene into the patient’s DNA cells.
Once corrected, these stem cells are put back into the patient and when engrafted, they produce an ongoing supply of healthy cells that boost the immunity and fight against infections.
Current treatment involves injections (once or twice per week) of the ADA enzyme until a bone marrow donor could be located.
If a match isn’t found, the patients need lifelong injections of ADA, as well as preventative meds. However, the problem is that these are highly expensive therapies and out of reach for many parents worldwide.
What Does this New Gene Therapy Mean for Children with this Condition?
If approved, this therapy would become a new treatment option for ADA-SCID because it’s a one-time procedure and its potential to prolong their lives is strong.
In fact, two to three years into the treatment, all 50 children are alive and doing well. 48 of them are no longer experiencing symptoms, even though their monitoring continues.
The other two children, in whom the treatment wasn’t successful, returned to their current standard treatment and one eventually got a transplant.
And, the good news is that there have been no side effects reported and only mild or moderate complications from the needed preps for the therapy.
The Inspiring Story of 4-Year-Old Sarah
This four-year-old girl from South Yorkshire was less than 10 days old when her mom Maria started worrying about her weight loss and the sore and bleeding rash that didn’t go away.
The tests she underwent showed she had ADA-SCID.
Her mom recalls the moment she saw the blood test results and the diagnosis.
She was upset and wasn’t allowed to even kiss her daughter or sleep next to her. Things had to be sterilized to keep her safe.
The girl was later referred to the experimental gene therapy and several years after, she’s doing very well.
The rash went away she was getting better and looked healthier. She can now do everything other children can do, her mom explains.
The whole family has been positively affected by the success of the treatment and it even inspired Maria to get back to studying and train for a nurse.
She knows how it feels and wants to help.
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