New Hope for Cystic Fibrosis Patients

Dr. Eitan Kerem, is a world-renowned cystic fibrosis specialist and head of the Hadassah Medical Organization's Division of Pediatrics and founder of its Center for Children with Chronic Diseases. He is the principal investigator of many national and international multi-center clinical trials and author of over 170 papers in the field of pulmonology.

Born in Jerusalem, he graduated from the Hebrew University-Hadassah Medical School in 1982. He completed his pediatric residency at the" Bikur Holim" Hospital in Jerusalem and in 1987 he joined the Chest Division of the Hospital for Sick Children in Toronto, Canada, for a three-year fellowship in pediatric respiratory diseases. In 2002 he was appointed Head of the Department of Pediatrics at the Hadassah Medical Organization.

Melanie Cole (Host): For Ashkenazi Jews, there is a one in 24 chance of being a carrier for the gene mutation that cause cystic fibrosis. If two people who carry the mutated gene have a child; the child has a one in four chance of having cystic fibrosis. Today, we are speaking with Dr. Eitan Kerem on this episode of Hadassah On-Call.

Welcome to the show. My guest today, is Dr. Eitan Kerem. He is the head of the division of pediatrics at the Hadassah Medical Center. He is also the founder of the Center for Children with Chronic Diseases and the Director of the Center for Cystic Fibrosis at Hadassah Medical Organization. Welcome to the show Dr. Kerem. So, first explain for the listeners, what is cystic fibrosis?

Dr. Eitan Kerem, MD (Guest): Hi. Cystic fibrosis is a genetic disease that causes a defect in the protein which is a channel that secretes chloride in the airways and in the intestinal system in order to maintain hydration of these organs. If the gene is defective; then the protein which is call CFDR is defective; then there is less hydration and dryness of secretions in these airways in the lungs and mainly in the pancreas and as a result, in the pancreas there is lack of secretion of enzymes which digest the food, and in the lungs there is dryness of secretions and what we call mucus plugging which predisposes to infection, inflammation and progressive lung damage that causes end-stage lung disease and in this stage patients require lung transplantation.

Melanie: So, how is cystic fibrosis inherited and can it skip a generation? As I mentioned in the intro, that if a couple is known to carry this gene, then it can be an inherited trait. So, can it skip a generation? How is it inherited?

Dr. Kerem: Well, if both parents are carriers of a defect in the gene which we call a mutation; then there is a chance or a risk in every pregnancy of 25 percent, of child being born with the disease. So, if it skips a generation, it is just by chance that none of the children were in the 25 percent. We have families with four children with cystic fibrosis and we have a family that has ten children without cystic fibrosis and the eleventh one had it, so the chance is in each pregnancy for 25 percent.

Melanie: Is there a way to tell if someone is a carrier, and if there is, who should get screened, Dr. Kerem?

Dr. Kerem: Okay, so this is a very important question because the CF gene is a large gene, actually it is the second largest gene in humans. So, there are many, many mutations. We here at Hadassah, we did a work together with the Hebrew University to map the different mutations in different ethnic origins of Jews. So, we now can map 99 percent of mutations among Ashkenazi Jews, a similar number among Jews from different origins from Morocco, Algeria, Libya, Egypt they have different reporting organizations. It is much less common among Jews who came from Iraq or Iran. We have specific mutations for Jews who came from Georgia and the map that we published, is now serving in every genetic consultation clinic worldwide when Jewish couples are coming for consultation. So, also in Israel, we have a program for free carrier screening, so every couple can be screened before pregnancy to see if they are carriers. And we recommend that Jewish couples will be screened also for cystic fibrosis in addition to other diseases that are more common among the Jewish population; the Ashkenazi Jewish population.

Melanie: So, the current screening guidelines, you're just saying that every Jewish couple, before they get pregnant should get screened?

Dr. Kerem: Absolutely.

Melanie: What about here in the states?

Dr. Kerem: Well, in the states, there is another program which is newborn screening where they identify children that are born with cystic fibrosis; however, they cannot enable prevention of the birth of such children. And therefore, we recommend that in families where prevention of birth of a child either by termination of pregnancy or by in vitro fertilization and diagnosis in the fetuses who are sick and who have CF and returning to the mother only those who do not have CF, are options to prevent the birth of such children.

Melanie: So, what is the current standard of care if you have a child with CF?

Dr. Kerem: With treating, the most important strategy is to prevent damage to the lungs because the lungs are those that determine the prognosis of the child with CF. One of the key issues is nutrition. Children, most of them require enzymes, artificial enzymes in order to digest the food and many times we supplement them with high calorie, high fat diets in order to maintain good nutrition. Then we recommend physiotherapy which are exercises to drain the thick mucus from the lungs. We give inhalations to the children with salt and with enzymes that degrade the thick mucus. They need frequent visits to the CF centers, frequent use of antibiotics. So, a child with CF may need three to five inhalations every day, physiotherapy which is about forty minutes every day and swallow twenty, thirty sometimes forty different pills every day. So, it is on one hand, a major burden, depending how you see it. But, on the other hand, it brings hope to the families because now we are in the stage that here at Hadassah, most of our patients are adults and in the last year, we were celebrating the birth of nearly ten children or babies to mothers and fathers with cystic fibrosis.

Melanie: That is incredible, Dr. Kerem. So, what are some of the latest breakthroughs in treatment? What's exciting in the field right now? And what role is gene therapy playing in care and treatment?

Dr. Kerem: So, the ultimate therapy might be introducing the normal gene to the lungs and a study was done in the UK by inhalation of the normal gene that failed to show advantage over placebo. And the reason is that the gene which is a large gene, needs to penetrate the thick mucus layer of the lungs and then into the cells and we have billions of cells and this is probably a challenge that we are not there yet. So, there is another approach where we try to fix the mechanism by which the mutation is causing the disease and I will give you an example. Among the Ashkenazi Jews, the most common mutation is a mutation that causes a premature command to stop translating the program to produce the protein and therefore the protein that is being produced is short, truncated and nonfunctioning. So, since this is a common mutation only among Ashkenazi Jews and it is common here in Israel; we undertook ourselves to develop therapies that will be specific to these kinds of mutations. And we have shown that some drugs can cause what we call read through, ignoring the premature stop command and having the translation system to translate the gene until the end and produce normal protein. So, we have shown it in a small scale and now there are several companies including one here in Israel, that produced compounds that we are just about to start clinical studies with patients with these new compounds.

Melanie: That's fascinating. Dr. so, people have heard through the media that people that are growing up and becoming adults with cystic fibrosis can't socialize with each other. Speak to that for just a minute.

Dr. Kerem: Well, in the past, we used to have summer camps for children with cystic fibrosis, but we noticed that children cross the infections from one to the other and we would like to prevent cross infections. However, on the other hand, growing with cystic fibrosis, with a disease that you know that is life shortening; with burden of treatments; imposes on the child and the family very special challenges – emotional challenges. And speaking with the children, they tell me that the only ones that can understand me and I can speak freely with is someone with cystic fibrosis. They tell me I have very good friends in school, but they do not really know what I have in my life. And only children who have the same problem as me, can understand me. So, in order to avoid encounters, there are today technologies through the internet, through the social media that they can be friends and can talk and can meet but do not endanger each other with infecting them with the wrong bacteria.

Melanie: And wrap it up for us Dr. Kerem, what an interesting topic and fascinating research that you are doing, with what current research indicates for future developments and treatment. Where do you see this going and give us a little wrap up here?

Dr. Kerem: Cystic fibrosis is the most common severe genetic disease among Caucasians. It was a pioneer in identifying the gene that causes the disease and a technology that was pioneering at that time, not finding a gene without knowing what it is causing. And now it is leading the research in treating genetic diseases and the strategy that is being used today is already being used in other diseases. I mentioned correcting the premature stop command, now in Israel, children with Duchenne muscular dystrophy which is a muscular disease, are being treated with these kinds of therapies. So, it is a severe disease, but with lots of hope. And I tell the parents today when I meet them, with a child with CF; I have bad news and I have good news for you. The bad news is that you are going to work very hard. The good news, if you are working hard, with your child you will be a happy and healthy grandfather or grandmother. And I think this is the future that we can, not promise but we can describe to these families and to the children that the disease is today, life-shortening but with the therapies that we have today, we don't know how long people can survive and we believe that they will survive – will have survival as the regular population.

Melanie: Thank you so much Dr. Kerem for being with us today. This is Hadassah On-Call, New Frontiers in Medicine brought to you by Hadassah, the Women's Zionist Organization of America. The largest Jewish women's organization in America, Hadassah enhances the health of people worldwide through medical education, care and research innovations at the Hadassah Medical organization. For more information on the latest advances in medicine please visit Hadassah.org, and to hear more episodes in this podcast series, please visit Hadassah.org/podcasts, that's Haddasah.org/podcasts. I'm Melanie Cole, thanks so much for listening.

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