My Breakthrough Drug or Just More Nonsense?

Having a chronic disease is difficult but it's even more difficult sometimes having high hopes for a cure or even just a major breakthrough and then reading that the trials failed to show any improvements in the participants. We hoped that the Ataluren trials would be the first breakthrough drug to target nonsense mutations (my genotype), however; today we received the news that Alturen would not be the miracle medication that we so dearly needed.

Here is the quote from Dr. Stuart Peltz who is the CEO of PTC Therapeutics, the company who developed Ataluren.

"We are disappointed with the outcome of this trial as there are no treatments that target the underlying cause of nonsense mutation cystic fibrosis, one of the most difficult forms to treat."


No, Lloyd, I'm not.

Ataluren is a therapy that was created to try and restore the protein designed to help enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that stops the synthesis of the essential protein.

In layman's terms, back to the drawing board.

I didn't have much hope in the trials as rumor had it that the drug was unlikely to be successful. Still the positive side of this is that drug companies along with the CF Foundation are now targeting the nonsense mutations that affect myself and another 10% of the world's CF population.

I'm conflicted with all of the great news surrounding Kalydeco and Orkambi, two of the breakthrough drugs for cystic fibrosis. These two drugs combined help 50% of the CF population while people like me are left to wait. The hardest thing is when people forward you the great news about these drugs and you're forced to respond, "Great to hear. I'm not a candidate."


Vertex Pharmaceuticals announced both breakthrough drugs Kalydeco and Orkambi this decade.

I am thrilled for the people being helped but sometimes it's hard knowing that my breakthrough, much like a sports championship in my home city of Atlanta, is still probably years away. It's not just me though. I'm also concerned for the parents of young children who put all their eggs in one proverbial basket.

Again, it's not the end of the world. Treatments today are so much better than 20, 10, or even 5 years ago.

Our breakthrough is coming...

And I refuse to call that "nonsense."


I've got too much to fight for to let this keep me down.

Live your dreams and love your life.

Best Wishes,

Andy