The gene therapy approach described in the paper involves first removing some of the patient's blood-forming stem cells, which create all types of blood and immune cells. Now, lentiviral gene therapy technology has advanced significantly and offers the potential to improve the safety and efficacy profile of this treatment option for patients. In earlier trials of gamma-retroviral gene therapy for other similar diseases, serious side effects including leukaemia have been seen in some patients. "I now know how it feels to have your child as a patient and to be so sick, and I want to use my experience to help others in a similar position." Sarah's treatment has had a huge impact on the whole family, but it also inspired Maria to go back to studying and train to become a nurse. She's doing so well now and can do everything a normal child her age would do."
SCID CURED SKIN
Six months after she was given the gene therapy her skin was clean and healthy and the other symptoms got a lot better. "Before, her nappy rash was always bleeding and sore, she was being sick and losing weight. Sarah was referred to GOSH for gene therapy and several years after her treatment is doing very well: It was horrible to not be able to do normal things with my own daughter." Everything had to be highly sterilised to keep her safe. I wasn't allowed to kiss my daughter or sleep next to her. I saw it was SCID and I was incredibly upset.
"I remember the exact time I saw the paper that had the blood test results on and the diagnosis.
She was less than ten days old when her mum Maria became concerned about her daughter's weight loss and sore, bleeding nappy rash that wouldn't heal. One of the patients treated was four-year-old Sarah from South Yorkshire. No serious side effects have so far been reported, with generally mild or moderate complications experienced from the necessary preparation for the gene therapy. In the two cases in which treatment wasn't successful, both children were able to return to current standard treatments, with one eventually receiving a bone marrow transplant. Of these, 48 are no longer showing symptoms of ADA-SCID, although they will have lifelong monitoring. Two to three years after the treatment, all of the 50 children treated with the new gene therapy at Great Ormond Street Hospital, UCLA Mattel Children's Hospital and the National Institutes of Health (NIH) are alive and well. If approved, gene therapy would be a welcome new treatment option for ADA-SCID as it is a one-time procedure that has the potential to provide life-long results. These treatments are expensive and therefore out of reach for patients in many countries. If a matched bone marrow donor is not available, patients require lifelong ADA injections along with preventative medicines. The standard treatment for ADA-SCID involves once or twice weekly injections of the ADA enzyme until a matched bone marrow donor - usually a close family member - can be found. In a new study published in the New England Journal of Medicine, co-lead authors Professor Donald Kohn (UCLA) and Dr Claire Booth (GOSH) reported the two- to three-year outcomes of 50 children who were treated in clinical trials with an experimental stem cell gene therapy for ADA-SCID between 20. Recently, new-born screening for SCID has been implemented in some countries to help diagnose the condition early in life. Day-to-day activities like going to school or playing with friends can lead to a dangerous infection. It is caused by mutations in the gene that creates the enzyme adenosine deaminase, which is essential to a functioning immune system.Ĭhildren with ADA-SCID have no immune system and, if left untreated, the condition can be fatal within the first two years of life.
Severe combined immunodeficiency due to adenosine deaminase deficiency, also known as ADA-SCID, is a rare, life-threatening disease that prevents children from living a normal life. An international team of researchers at Great Ormond Street Hospital (GOSH), and University of California, Los Angeles (UCLA) have developed a gene therapy that successfully treated 48 out of 50 children with a form of severe combined immunodeficiency that leaves them without an immune system.
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