My Thoughts Kalydeco

Ran onto this old post I wrote about my thoughts on Kalydeco. Updated it with some current information. Hope you enjoy.

I am sure you are aware of this.  What does the CF population in general think about this?  Does it help you?

The CF community is in one of two camps concerning this: uber excited or feeling that its bitter-sweet.

This particular drug will only work for those in the community that have the G551D mutation. It's estimated that in America, that number stands at somewhere between 2000 - 3000. So, obviously those patients and their families are over the moon right now. There are also many (me included) that are super excited for them and know that this is a potential step forward for the CF community at large.

Then there is a portion of the community that feel happy for "them" but sad for themselves or their kids. Most of this camp has the most common mutation, DF508 (I have two copies). So far, a drug for our specific mutation hasn't yielded great results. We're all hopeful, but I'm not holding my breath for anything ground-breaking for at least 5-10 years.

(Update: The results weren't a slam dunk, but they weren't terrible either. I may have to go with 3-7 years instead :) )

So in short, it was an amazing day for many of my friends and a huge step forward for all in the CF community. I'm pumped over here!!

I guess my view is that they figured out a delivery system for genetic modification, right?  That seems HUGE to me.  This drug, when taken, will correct the genetic mutation in certain cells, yes?

Are there any other drugs that actually correct gene mutations on the market, CF or otherwise?  Just seems like a huge thing to me.

It's big, but we're still a ways away.

The real issue with CF, and ultimately the effectiveness of these drugs, is that there are over 1600 mutations affecting the cell and CFTR in different ways (thankfully not over 1600 different ways, however). This new drug works for those with G551D, because it actually gets the "door" (CFTR) on their cell wall to open up and exchange sodium, potassium, water, etc to a level within "normal range". The key here is that their CFTR is actually on the cell surface to begin with.

The challenge for those of us with the DF508 mutation, is that our CFTR is "stuck" on the nucleus of our cell. They are currently trying to get the CFTR away from the nucleus and to it's proper place on the cell wall. If they can do that, they will in theory be able give this new drug to us as sort of a one-two punch.

I'm not sure whether or not there are other drugs on the market that are similar. This drug doesn't correct the mutation, it's correcting the result of the mutation.

Looks like there are between 2000-3000 WORLDWIDE that can benefit from this drug, not just America.

They have said lately that it will eventually be able to benefit others outside of the G551D mutation, but even then, the majority of people with CF will not see the benefit.

So in short, we're closer than we were yesterday, but not as far as we'd like to be tomorrow.