Drug created for only one patient: treatment for a child with Batten's disease


Researchers at work in a laboratory
Researchers at work in a laboratory
Boston, 11 October 2019 – For the first time a patient with one rare disease has been taken care of thanks to a drug developed tailored just for her. The case, described on New England Journal of Medicine, is that of the small Mila, an 8 year old girl to which in 2016 was diagnosed Batten disease, a problem that damages brain cells and leads to death. The researchers of Boston Children's Hospital, led by neurologist Timothy Yu, however, they discovered from aDNA analysis that the cause was a single mutation of a gene called Cln7, essential to produce a protein necessary for lysosomes, which in cells have the role of removing or recycling the 'junk', the unwanted substances produced by cellular processes. Then they devised an antisense oligonucleotide, that is a small fragment of DNA capable of 'masking' the defect, renaming it 'Milasen' (from the name of the child, ed). A job made possible thanks to the funds raised by the foundation 'Mila's Miracle' founded by the mother of the child. Once tested on animals, the drug was infused into the baby, after FDA approval for the test.

After a year of treatment – the researchers write – the girl showed one decrease of convulsions of which he suffered, although on other problems such as blindness, there have not yet been any improvements. The therapy, however, has so far not shown any side effects. The procedure, the authors explain, could be used in about 10% of the hereditary neurological diseases, and the same group is already working on another drug that they hope to use on a patient soon. "The creation of Milasen in such a short time – the authors conclude – is an extraordinary precedent that can revolutionize how genetic diseases are treated".

But this type of procedure underlines in an accompanying editorial some experts of the American agency for the drugs Food and Drug Administration (Fda), it is not without ethical problems. "For example, regulators have to decide how much laboratory data is needed to show that the treatment can work – they write – and how to measure if the therapy can actually help the patient".

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