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NACFC Plenary Summaries

Plenary One: A Cure for All: Leaving No One Behind

Dr. Eric Sorscher and Dr. Mitchell Drumm presented the first plenary session at the 2016 North American Cystic Fibrosis Conference (NACFC), “A Cure for All: Leaving No One Behind”. Dr. Sorscher gave an overview of the demographics of the cystic fibrosis (CF) population, including various CF gene mutations, and drugs currently under development to correct them.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs are compounds that are designed to address defective CFTR proteins. For example, ivacaftor (Kalydeco™) and ivacaftor/lumacaftor (Orkambi™) are both drugs aimed at correcting CFTR defects in people with G551D-CFTR and other gating mutations and homozygous F508del-CFTR mutations respectively.  However, what about the 5% of people with CF who have two copies of a stop mutation or otherwise produce no CFTR proteins? In these cases, a modulator drug will not be helpful because there is no CFTR protein to correct.

In order to address stop mutations (also called nonsense mutations or X mutations), as well as other mutations that result in no protein, scientists are targeting the steps before protein synthesis – namely, DNA and RNA. Dr. Drumm spoke about advances being made in gene editing, which is aimed at directly repairing the genetic defect that causes CF.

Gene editing involves altering the DNA sequence of the CFTR gene, making specific and precise changes in chromosomes. A break is made in the DNA at a specific spot at or near the CFTR mutation. Compounds are introduced into the cell aimed at tricking the cell into replacing the CFTR mutation with a normal DNA sequence when the cell repairs the break. This technique could be effective with people with stop mutations, because it targets the step before proteins are made.

Notably, progress that is made with gene editing in CF can be applied to other genetic diseases as well.

To view this plenary session in full, along with other plenary sessions, symposia, workshops and short courses, click here to register for free to watch the live streams.

Plenary Two: Clinical Research: A Worldwide Cystic Fibrosis Community Effort

The second plenary session at the 2016 North American Cystic Fibrosis Conference (NACFC), “Clinical Research: A Worldwide Cystic Fibrosis Community Effort”, featured Dr. Patrick Flume, Dr. Christiane De Boeck and Patricia Burks, as well as a three-member community panel. The talk consistently referenced the analogy of getting all cystic fibrosis (CF) patients to the moon, with the moon representing effective treatment and restored cystic fibrosis transmembrane conductance regulator (CFTR) function.

There is a need for better drugs that target patients with a wider range of mutations at younger ages. Clinical trials are essential to realizing this goal. Many studies are ongoing or starting, and a significant number of patients are needed to participate in these studies to make them possible. Dr. Flume mentioned that although the reality is that not all clinical trial compounds will make it to market because they are not effective or cause negative side-effects, the only failure would be not enrolling enough patients in the studies to make them possible, because questions about the compounds will remain unanswered.

Dr. De Boeck discussed clinical trials taking place in Australia, New Zealand and Europe. Specifically, she stated that the European CF Society Patient Registry has information from 30 countries on 38,985 patients with 1,300 different CFTR mutations. The European Clinical Trials Network is comprised of 15 countries, with 43 sites across Europe and 17,500 patients and is growing fast. They were able to grow the network by working together with the Cystic Fibrosis Foundation in the United States to emulate their model. As a measure of their success, the European Clinical Trials Network is currently working on 38 studies, involving 1,457 total clinical trial subjects. The network is empowering to CF patients and parents/caregivers. She emphasized the need for patients who embrace research as their ticket to the future and who voice their research priorities. Patients are the most important partner in clinical trial programs: they are the stars of the program.

Finally, Patricia Burks facilitated a community panel comprised of two adults with CF, Brandon Erhart and Kristin Dunn, and one CF parent, Elizabeth Bishop. All three panel members have participated in clinical trials, with a total of over 15 trials between them. Mr. Erhart mentioned that he experienced increased treatment adherence to be a benefit of participating in clinical trials. Ms. Dunn said that clinical trials had given her hope and inspiration, both in clinic visits and her everyday routines at home. She expressed that it is important that everyone has the opportunity to participate in clinical trials. Ms. Bishop mentioned that participating in clinical trials had given her eleven year-old twins with CF their power back and enabled them to do something about their disease.

To view this plenary session in full, along with other plenary sessions, symposia, workshops and short courses, click here to register for free to watch the live streams.

Plenary Three: You Can Observe a Lot by Just Watching: Lessons From the CFF Patient Registry

The focus for the third and final plenary session at the 2016 North American Cystic Fibrosis Conference (NACFC) emphasized the use of  CF patient registries. The talk, “You Can Observe a Lot by Just Watching: Lessons from the CFF Patient Registry” by Dr. Wayne Morgan highlighted the Cystic Fibrosis Foundation’s (CFF) Registry in the United States, which has data on CF patients going back to the 1960s. In order to be included in the CFF Registry, patients must be seen at an Accredited CF Care Centre and consent to their data being used. Currently, the CFF Registry contains data on 28,983 CF patients, which represents an estimated 84% of the total CF population in the United States.

Similar to the Canadian CF Registry, the CFF Registry has a wide range of applications. Data in registries can be used to take snapshots of the CF community as a whole to get a sense of trends related to a variety of indicators. For example, it captures median age of survival trends – survival for CF has shown a dramatic 12% improvement in the US over the past 30 years. Registry data also enables comparison between countries. For example, in 2015, the median age of survival for people with CF in the United States is currently at 41.6 years of age, whereas for Canada, it is 52.1 years of age.

The CFF Registry shows the changing demographics of the CF population, with 10,000 more adults with CF in the United States than in 1986. Being able to demonstrate this trend has supported the development of adult programs. Similarly, the CFF Registry also tracks information on the life experiences of adults with CF, including rates of college graduation, student/employment status and marital/cohabitation rates. By comparing this data with data from non-CF populations, the CFF Registry is able to show that adults with CF are similar to non-CF populations on all three variables, with slightly higher rates of college graduation.

The CFF Registry data is also used to create CF Care Centre-specific reports to track how a particular centre is doing when it comes to the health of their patients compared to other CF Care Centres. If data illustrates that a particular CF Care Centre’s patients tend to have lower lung function than average, this could demonstrate the need to implement a Quality Improvement program.

Finally, the CFF Registry can generate patient-specific reports to show trends in health outcome such as lung function, height and weight. These reports can be reviewed by the individual’s care team and help inform decisions about that person’s care. This data can also be used to coach patients, parents and caregivers and help to educate them about their care.

Overall, the CFF Registry along with the many CF Registries around the world are an incredible resource that provide extensive information on the CF population. The data has implications for use in research and clinical care for the benefit of people with CF, parents/caregivers, healthcare providers and researchers.

To view this plenary session in full, along with other plenary sessions, symposia, workshops and short courses, click here to register for free to watch the live streams.