Hi Everyone,

It’s settled. We’ve 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. We had the pleasure of letting her parents know the exciting news last week.

How did we pick the first kid? The laboratory of Dr. Tim Yu at Boston Children’s Hospital/Harvard collected and grew skin, blood and stem cells from three different young kids whom we believed had the right type of mutations in their A-T genes to be treated with an antisense oligonucleotide gene therapy approach. The scientists then made many different oligonucleotides designed to silence each of the kids’ mutations and tested them in each child’s cells.

In the end, we 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 kid (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.

Although the family of the little girl we’ve picked has given us permission to share her video, they’re still deciding whether they want to go public with their complete identity. But in the meantime, as you watch the cute little girl in the video, I know you’ll realize that without a treatment, she would soon begin deteriorating neurologically, losing balance and motor control, eventually making it impossible for her to walk, hold eating utensils, speak clearly, swallow easily or read. But, because of the help that so many of you have given us up to this point, we’re now on the verge of potentially changing her life, and hopefully the lives of other A-T kids in the near future.

In addition, numerous advocates for other rare genetic diseases, especially kids’ diseases, have heard about our efforts and progress, and have begun reaching out to us in hopes of replicating our approach. And so, all your support until now is actually being leveraged beyond A-T.

Please stay tuned. All the best,

Brad Margus
Volunteer Chairman and President

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