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The experimental gene therapy was safe overall, according to the researchers, although some participants experienced expected side effects such as a low platelet count following chemotherapy. Viral and bacterial infections that participants had prior to treatment resolved afterwards.
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While the eighth participant initially had low numbers of T cells, the numbers greatly increased following a second infusion of the genetically modified stem cells. Normal numbers of multiple types of immune cells, including T cells, B cells and natural killer (NK) cells, developed within three to four months after gene therapy in seven of the eight infants. Finally, the stem cells are infused back into the patient, who has received a low dose of the chemotherapy medication busulfan to help the genetically corrected stem cells establish themselves in the bone marrow and begin producing new blood cells. Then, an engineered lentivirus that cannot cause illness is used as a carrier, or “vector,” to deliver the normal IL2RGgene to the cells. The gene therapy approach involves first obtaining blood-forming stem cells from a patient’s bone marrow. The NIH study is evaluating the gene therapy in older children and young adults with X-SCID who previously had received stem cell transplants.
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Encouraging early results from a separate NIAID-led study at the NIH Clinical Center informed the design of the study in infants. Jude and the Benioff Children’s Hospital of the University of California, San Francisco. The Phase 1/2 trial reported today enrolled eight infants aged 2 to 14 months who were newly diagnosed with X-SCID and lacked a genetically matched sibling donor. Jude Children’s Research Hospital in Memphis, Tennessee, developed an experimental gene therapy that involves inserting a normal copy of the IL2RG gene into the patient’s own blood-forming stem cells. To restore immune function to those with X-SCID, scientists at NIAID and St. This advance offers them the hope of developing a wholly functional immune system and the chance to live a full, healthy life.” “These exciting new results suggest that gene therapy may be an effective treatment option for infants with this extremely serious condition, particularly those who lack an optimal donor for stem cell transplant. Fauci, M.D., director of NIH’s National Institute of Allergy and Infectious Diseases (NIAID).
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"A diagnosis of X-linked severe combined immunodeficiency can be traumatic for families," said Anthony S. These patients require lifelong treatment and may continue to experience complex medical problems, including chronic infections. Those without a matched sibling typically receive transplants from a parent or other donor, which are lifesaving, but often only partially restore immunity. However, less than 20% of infants with the disease have such a donor. Infants with X-SCID typically are treated with transplants of blood-forming stem cells, ideally from a genetically matched sibling. If untreated, the disease is fatal, usually within the first year or two of life. Infants with X-SCID, caused by mutations in the IL2RG gene, are highly susceptible to severe infections. These interim results from the clinical trial, supported in part by NIH, were published today in The New England Journal of Medicine. The new approach appears safer and more effective than previously tested gene-therapy strategies for X-SCID. They experienced substantial improvements in immune system function and were growing normally up to two years after treatment. Eight infants with the disorder, called X-linked severe combined immunodeficiency (X-SCID), received an experimental gene therapy co-developed by National Institutes of Health scientists. A small clinical trial has shown that gene therapy can safely correct the immune systems of infants newly diagnosed with a rare, life-threatening inherited disorder in which infection-fighting immune cells do not develop or function normally.