On November 30, 2018, the Ataxia-Telangiectasia (A-T) Children’s Project and its President Brad Margus announced that the Project has selected a little, 18-month girl on the west coast of the U.S. to be the first A-T child in history to receive gene therapy. The Project had the pleasure of letting th girl's parents know the exciting news last week. How was the first child selected? The laboratory of Dr. Tim Yu at Boston Children’s Hospital/Harvard collected and grew skin, blood, and stem cells from three different young children who we believed had the right type of mutations in their A-T genes to be treated with an antisense oligonucleotide (ASO) gene therapy approach. The scientists then made many different oligonucleotides designed to silence each of the children’s mutations and tested them in each child’s cells. In the end, the group identified several oligonucleotide molecules that worked really well in this little girl’s cells, not only silencing her mutation and causing the A-T protein to be made correctly, but also causing downstream biological pathways to be activated as though her cells were from a healthy child (confirming this downstream function took us longer than planned to do, but now gives us more confidence to move forward). This means that we now have both our drug and our patient selected. Very soon, we’ll be signing a contract to begin the manufacture of enough quantity of the drug to run our “n of 1” clinical trial (we’ll keep the other oligonucleotides that worked as backups). We’ll also make sure that the drug produced will be clinical-grade to satisfy the FDA. As soon as we receive the first batch of this final version of the drug, we’ll test it for safety in rats before applying to the FDA for approval to start testing it in a human.
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