Cure CMT4J Executive Director Jocelyn Duff, getting the research update from Jackson Labs.

I wish I could have seen the faces of our CureCMT4J team members during our most recent conference call with our researchers. It was a big call, both in numbers and importance–eleven people on phones in their offices, cars and kitchens all over the country. I imagine the scientists nodding and scribbling notes as our lead researcher at Jackson Labs, Cat Lutz, brought everyone up to date with the progress in her lab. The rest of us, I think, stared blankly at our laptops and notebooks, unsure of what language she was speaking.

“Cat, could you take a moment and try to give a non-scientist explanation for what you’re seeing? “ I interjected. She happily obliged and my eyes stopped glazing over with scientific jargon overload. At the end of her explanation she paused and said, “Everything has gone better than anticipated.” This, really, is all anyone needed to hear.

We are on target with our pre-clinical work at Jackson Labs in Maine. CureCMT4J funded the creation and production of the viral vector to be used in mice this April/May. Our researchers hope for a preliminary proof of concept as early as 6-8 weeks after introduction of the healthy gene and viral vector. After this we watch and wait, our researchers making copious scientific observations, hoping that the initial proof of concept is lasting evidence that gene therapy works in mice with the same mutation that causes CMT4J.

When the pre-clinical work is done our research will no longer be covered under an NIH grant. Next steps include a toxicology study to ensure that the gene therapy method and viral vector that we are using are safe. Toxicology studies are projected to cost approximately $500,000. Shortly thereafter we will need more than $1 million to get a small clinical trial off the ground.

Yes, the price tag is enormous. But the beauty of gene therapy is the possibility of a one-time fix. Unlike expensive drug therapies for other diseases that patients might require life-long, gene therapy has the ability to provide a one-time treatment.

We are poised to be the next rare disease to take on the challenge of proving the benefits and safety of gene therapy today. We’re striving to make the path and expense to get there a little bit shorter, easier, and cheaper for the next rare diseases to follow.

What would you do to save your child’s life?