Australian-first stem cell trial tackles rare condition

Young children born with an extremely rare genetic condition will be treated as part of an Australian-first trial.

Babies diagnosed with RAG-1 deficient severe combined immunodeficiency, or RAG-1 SCID, are born without infection-fighting immune cells.

The condition leaves infants extremely vulnerable to common illnesses, with most dying from infection within their first years of life.

Between six and seven children are born with RAG-1 SCID in Australia every year.

Participants in the trial at Melbourne’s Murdoch Children’s Research Institute will have stem cells taken from their own bone marrow.

Their samples will be shipped to Leiden University Medical Centre in the Netherlands, where they will be genetically modified with a healthy copy of the RAG-1 gene and returned to Australia.

The cells will then be injected back into the child’s bloodstream to become healthy white blood cells, building a functional immune system.

Paediatric immunologist Theresa Cole said the therapy could be used to treat other forms of SCID and genetic disorders.

“This is probably science fiction but something that we’ve been working on for many decades,” she told reporters in Melbourne on Monday.

RAG-1 often goes undiagnosed until babies acquire an infection but newborn screening could change that.

“That is coming across the country and then we’ll be able to pick up these babies before they have symptoms,” Ms Cole said.

The trial is only the second one worldwide, following on from Leiden University.

Medical Research Minister Ben Carroll said it would give young Australians the chance to live a happy, healthy and long life.


Tara Cosoleto and Callum Godde
(Australian Associated Press)


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