Hope

Question

Hello
can we really have confidence in medicine? Must we really believe that one day cystic fibrosis will be cured? Is a treatment for Class 5 mutations underway? Best regards.

Answer

Hello,
Yes, we can have confidence in the progress of medicine. These advances have been considerable in recent decades, particularly in CF, due to the combined effects:
- organization of care in CF centers;
- generalization of newborn screening;
- research and development of more effective drugs;
- improvement of treatment strategies aimed at, among other things, treating respiratory exacerbations earlier, targeting the eradication of Pseudomonas infection, delaying the onset of chronic infection ...;
- pulmonary transplantation in the most advanced cases
- ...

This progress has resulted in:
- an almost disappearance of deaths during childhood and adolescence, resulting in a steady increase in the adult population (which has exceeded 50% in France since 2013),
- improved health indicators, including FEV1 for each age group,
- increased life expectancy. Thus, the Kaplan-Meier survival curve published in the 2015 Registry Report shows that a very high proportion (87%) of patients born between 1992 and 1996 were alive in 2015. Curve reflects the effectiveness of care in past years. Another way of expressing this increase in life expectancy is the calculation of life expectancy at birth, which is the projection of the average life expectancy for children born with CF in a given year and who will benefit from the treatments available at their birth. This life expectancy was about 4 years in France for children with CF born in 1957 and 47 years for those born in 2005. Note that this life expectancy, calculated with the hypothesis of stable therapeutic efficacy since birth , is necessarily underestimated because the therapeutic progress will obviously continue and even accelerate,
- and improved quality of life. Despite the complications and constraints associated with the disease, an increasing number of patients have a social life, a professional life and coupledom, even children.

Currently, research and the availability of new molecules acting on the mechanism of the disease (and not only on the symptoms) are in full swing. These "modulators" of the CFTR protein offer additional prospects for major advances, be it correctors (such as lumacaftor) that allow re-addressing the mutated protein to the cell membrane or potentiators (such as Ivacaftor) which improve the function of the mutated protein in place in the membrane. A new generation of modulators is currently undergoing clinical trials for patients with a genotype that associates two so-called "severe" mutations (Class I, II or III mutations) or associating a "severe" mutation with a so-called "moderate" mutation (Mutations of classes IV, V and VI). For more information on the possibility of being included in one of these trials, please do not hesitate to speak with the doctor of your CF Centre.
It is of course only progress and no healing. Healing presupposes that we can not only stop the progression of the disease but also repair anatomical lesions currently considered irreversible.

It is another challenge to repair these lesions or to replace a very damaged organ by an artificial organ or a neo-organ reconstituted from, why not, stem cells. These perspectives are not only science fiction, but the progress of medicine is accelerating considerably and history proves that many of the wildest dreams of our not so distant ancestors have become reality.

Yes, there is a reasonable expectation that CF may be cured one day even though it is difficult to predict the time to cure it.

Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center

17.03.2017