A desperately sick baby with a rare disease has been treated using personalised gene-editing therapy in what has been described as a scientific “miracle”.
A mutation in the child’s liver cells had led to a potentially fatal disorder but medics, using CRISPR technology, were able to correct it.
It is the first time a personalised medicine based on CRISPR being administered successfully.
CRISPR – short for Clustered Regularly Interspaced Short Palindromic Repeats – enabled doctors to target the faulty gene with an enzyme called Cas9. The enzyme makes a cut in the mutated gene and the body’s natural defence mechanism kicks in to repair it – and make the DNA as good as new.
Gemma Marfany, Professor of Genetics at the University of Barcelona, described it as a “truly unique case” after hearing of the case, which was published in the New England Journal of Medicine.
“It seems to me to be a scientific ‘miracle’ that has made it possible to cure a very rare severe disease, and provides knowledge to treat many other diseases,” she added.
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Shortly after birth, the baby was diagnosed with CPS1 deficiency, a rare inherited disorder which prevents products from protein metabolism being fully broken down in the liver.
It causes ammonia to build up to toxic levels in the body, which can cause brain damage and organ failure.
The child first received a very low dose of the therapy at six months old, which was effective almost immediately. As the child became able to eat more protein less medicine was needed to maintain low levels of ammonia in the body.
The baby, who has not been named, also coped well with a gastrointestinal illness that would normally be extremely dangerous to a child with their condition.
“We were very concerned when the baby got sick, but they just shrugged the illness off,” said Dr Kiran Musunuru, a geneticist at the University of Pennsylvania, which conducted the research with the Children’s Hospital of Philadelphia.
According to the study, the treatment is ongoing but researchers are “cautiously optimistic about the baby’s progress.”
Professor Marc Güell, coordinator of the Translational Synthetic Biology research group and full professor at Pompeu Fabra University (UPF), stressed the significance of the findings.
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“Individualised, tailor-made therapies for a single patient are no longer a dream,” he said.
“Obviously, the process followed is of very high complexity and will require a lot of work to see how to scale it up and expand it to other cases. In any case, this work sheds a lot of light on the future.”
The research team said the success of the procedure “opens the possibility of creating personalized treatments in other parts of the body”.
Dr Miguel Ángel Moreno-Mateos, of the Andalusian Center for Developmental Biology said the case could offer a framework for the treatment of other illnesses.
“Although this has been a very specific approach, partly motivated by the devastating nature of the disease, it represents a milestone that demonstrates that these therapies are now a reality.
He added: “In summary, this work is proof of principle for a rapid and effective protocol for CRISPR-Cas therapies for the cure of human diseases in general and so-called rare diseases in particular, opening the door to other similar treatments in the near future.”
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