E finally turned 12 this week, so she is officially “on-label” for Orkambi!
For those of you who don’t know what Orkambi is, let me give you a brief summary. In 2012, the CF Foundation made a giant breakthrough with their FDA approval of the drug ivacaftor, brand name Kalydeco, that actually corrects part of the CF mutation at the cellular level! This means that one part of all of a CF patient’s cells would now be working properly. This was huge for the CF people who had a certain mutation that only had that one problem-almost a cure! Unfortunately, there are over 1800 CF mutations, and most of those involve multiple places at the cellular level that malfunction. Kalydeco only helped about 4% of the CF population, but it was a huge step forward.
Fast forward to July 2015. FDA approval was given for a combination drug, ivacaftor/lumacaftor, brand name Orkambi. This drug combines the power of Kalydeco and adds a second drug that fixes a different problem in CF cells. Confused, yet? 😉 The bad news is that Orkambi is not a cure for CF. It only fixes the malfunction in 2 parts of the cell. The most common mutation of CF, ΔF508, actually has more than 2 problems in each cell. But fixing 2 is better than none!
Orkambi is only labeled right now for people who have 2 copies of the ΔF508, these people affectionately called Double Deltas. About half of the CF population are Double Deltas, and 96% have at least one copy of ΔF508. There is already a drug in the CF Foundation’s pipeline, going through clinical trials, that combines Orkambi with a third drug. They are hopeful that this “3-drug-cocktail” might be available to every CF person in the future.
E is a Double Delta, but she was not eligible, she was “off-label”, until she turned 12. This is because the clinical trials were only performed on patients 12 and up, so FDA approval is only for those ages. Currently, clinical trials are going on for Double Delta children ages 6-11. We could have enrolled E in that and gotten her started on Orkambi sooner, but there is always a chance that she would receive placebo. We decided to wait the extra 8 months until she was 12 to make sure she was receiving the actual drug.
So, the burning question in your mind is How will this help E and other CF people? We don’t know exactly yet. In clinical trials, which lasted about 2 years, people reported an increase in lung function, a decrease in hospital admissions, a feeling of more energy, a decrease in salt in their sweat. These are all fantastic signs! Since FDA approval, thousands of people have started taking Orkambi. Some people have seen almost miraculous results. Some people have seen very little change. Others still have had such uncomfortable side effects that they have stopped taking Orkambi altogether. Obviously, we are hoping that it will impact E for the better. It may or may not, we can only hope and pray.
E should be able to start taking Orkambi in the next couple of weeks; we are just waiting for insurance approval. I would like to provide updates as to her health to give others an idea of what to expect on Orkambi. Next post will include E’s starting statistics, like lung function and sweat test results. Stay tuned….