Home HEALTH Rare ‘bubble boy disease’ likely cured with new gene therapy

Rare ‘bubble boy disease’ likely cured with new gene therapy

EIGHT infants with a severe immune disorder, sometimes known as “bubble boy disease,” appear to be cured of the disease thanks to an experimental gene therapy, according to a new study. The disorder, officially called Xlinked severe combined immunodeficiency (SCIDX1), causes babies to be born with little to no immune protection, making them prone to developing life threatening infections. It’s caused by a specific gene mutation.
The new genea therapy involves using an altered version of HIV — the virus that typically attacks the immune system and causes AIDS — to deliver a correct copy of the gene that causes the condition.
All of the children are now producing the immune cells needed to fend off the barrage of germs that humans encounter in their everyday lives, according to the study.
“These patients are toddlers now, who are responding to vaccinations and have immune systems to make all [the] immune cells they need for protection from infections as they explore the world and live normal lives,” lead study author Dr. Ewelina Mamcarz, a paediatric hematologistoncologist at the St. Jude Department of Bone Marrow Transplantation and Cellular Therapy in Memphis, Tennessee, said in a statement.
About 16 months after their treatment, the patients are developing normally and have not experienced serious side effects from the therapy. But they will still need to be monitored for a longer period to determine if the treatment is long lasting and doesn’t cause side effects later in life, the researchers said.
SCIDX1 is caused by a mutation in a gene called IL2RG, which is critical for normal immune function, according to the National Institutes of Health. The condition is rare, likely affecting about 1 in 50,000 to 100,000 newborns.
The disease can be essentially cured by a bone marrow transplant from a sibling that is a match in terms of certain immune system proteins. But fewer than 20% of patients with SCIDX1 have such a donor available, the authors said. Bone marrow transplants from unrelated donors are typically less effective and come with greater risks.
The name “bubble boy disease” comes from the highly publicized case of David Vetter, who was born in 1971 with SCIDX1, and spent most of his life in a plastic bubble while awaiting a bonemarrow transplant, according to CBS. He died at age 12, after receiving his transplant.
Some previous attempts to treat SCIDX1 with gene therapy have had serious side effects. For example, a gene therapy treatment in the early 2000s resulted in several patients developing leukaemia. In the new study, the researchers first collected patients’ bone marrow.