A-T ASO Gene Therapy Trial Continues!

Hi everyone,

I hope you and your family are doing well and keeping safe. As much as the COVID-19 pandemic has changed our world, I wanted to let you know that our ASO gene therapy trial for A-T – that you helped make possible – has not stopped. It continues forward, bringing hope to many A-T families around the world.

Heroic, unyielding researchers and clinicians led by Dr. Timothy Yu at Boston Children’s Hospital have been keeping everything going for us, even in an environment where almost all other clinical trials, even those sponsored by huge pharmaceutical companies, are being halted.

Ipek, the little girl with A-T we are treating, has now received six injections of the custom-designed, antisense oligonucleotide compound into her spinal fluid where we believe it is traveling up to her brain. Her doses started very small but have been increased with each treatment. Three weeks ago, her dose successfully reached the first checkpoint that we had hoped to achieve without side effects during the “escalation” phase of the trial. During this phase, safety tests have all gone smoothly, and we have been thrilled to see that she didn’t have any side effects.

In two weeks – just as the impact of COVID-19 on the city of Boston is supposed to peak – Ipek will receive another dose at the same level, continuing the “loading phase,” where her team monitors drug levels carefully in the hopes of giving cells in her cerebellum the best chance to see enough drug to correct her mutation, make functional ATM protein, and restore them to normal functioning.

Other than their visits to the hospital for the injections, Ipek’s family is staying home in isolation and having their food delivered. Her mother and father are feeling positive about the treatments, but – especially because Ipek is still very young – it’s too early for us to conclude anything about efficacy until more time has passed.

The great news is that neither COVID-19 nor side effects have stopped this clinical trial! Again, thanks so much for your support and encouragement.

All the best,

Brad Margus