Tuesday, November 7, 2017

NACFC 2017--Forward Progress for Next Generation Modulator Combos and Treatment of Rare Mutations

This is my 7th year attending the NACFC...and after 3 days of Workshops, Symposia, and Plenary Sessions--I am more optimistic than ever. At the NACFC, I try to take every opportunity I can to soak in the science and connect with the researchers. This year was the largest NACFC ever--with close to 5000 in attendance from all over the world. I skip the gym, sleep, and regular meals to that no opportunities escape me. This entry will touch on exciting news from the first Plenary Session.

  2020 is going to be a BIG year for treating Cystic Fibrosis

The first Plenary Session always features the most exciting progess from the previous year. I've been watching and writing about the development of the "second generation" 3 drug combinations of CFTR modulators at NACFC for several years. The lab data has been nothing short of THRILLING. Finally, researchers are confident enough in the combounds that they've put a real timeline on moving these breakthroughs from the lab to your medicine cabinet. The second generation combos will be available for those with either one or two copies of F508del, which means that 90% of the CF population will be eligible for treatment in 2020!

CFTR response for homozygous F508del--INCREDIBLE!

CFTR Response to next gen combos for heterozygotes with one F508 del mutation. Treating one mutation alone offers a clinical response almost as good as Kalydeco for G551D.

Studies focused on selection of the best of the Vertex corrector in development (the 3rd ingredient in our cocktail)  to add to the next gen combo.

The CFF is leaving no stone unturned to effectively treat nonsense mutations.

Gene editing or mRNA editing represents a true opportunity for a one time cure for people with ANY of the thousands of cystic fibrosis mutations.

FDA Accepts Lab Data as Legitimate Path Toward Drug Approval for Rare CF Mutations.

There are over 1000 mutations of cystic fibrosis worldwide that are only carried by a very small number of individuals. The potential to perform a traditional large scale human trial does not exist. As treatments for those with cystic fibrosis evolve, so must the FDA's approval criteria. I am so encouraged by this step forward. We now have the capability to test drug responses in cell lines in the lab, and truly personalize medicine for people with rare mutations. There are many that may even be responsive to existing drugs like Kalydeco, and now we have the opportunity to make sure responders are not getting missed!  

The FDA is an integral part of getting drugs to patients. This evolution of the drug approval process is a huge step forward!

It would be horrible to be missing out on an existing treatment if your mutation would benefit.

Testing drugs on cell lines in the lab in a way to bypass large scale clinical trials for those with rare CF mutations.

There is an effort underway to evaluate rare mutations to better predict drug response.

Techniques to address the mutations not eligible for small molecule modulators.

Next entry will focus on GENE EDITING!


  1. Hi Rebecca,

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