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Cystic Fibrosis Canada / Fibrose kystique Canada

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Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus.

It can cause problems with breathing and digestion from a young age. Over many years, the lungs become increasingly damaged and may eventually stop working properly.

Most cases of cystic fibrosis in the UK are now identified through screening tests carried out soon after birth. It's estimated that 1 in every 2,500 babies born in the UK has cystic fibrosis.

A number of treatments are available to help reduce the problems caused by the condition, but unfortunately average life expectancy is reduced for people who have it.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosis tend to start in early childhood, although they can sometimes develop very soon after birth, or may not be obvious until adulthood.

Some of the main symptoms of cystic fibrosis can include:

People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones ( osteoporosis) and liver problems.

Read more about the symptoms of cystic fibrosis

Causes of cystic fibrosis

Cystic fibrosis is caused by a faulty gene that a child inherits from both of their parents.

The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways.

To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene - one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally.

If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis.

Read more about the causes of cystic fibrosis

Screening and testing for cystic fibrosis

Most cases of cystic fibrosis are now detected soon after birth through the newborn blood spot test.

This involves collecting a drop of blood from the baby's heel and testing it for abnormalities that could indicate cystic fibrosis.

More tests will be needed to confirm the diagnosis, such as:

a sweat test - to measure the amount of salt in sweat, as the sweat of someone with cystic fibrosis has higher levels of salt than normal

a genetic test - where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

These tests can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously.

If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of having a child with the condition by checking if you're a "carrier" of the faulty gene that causes it.

Read more about how cystic fibrosis is diagnosed

Treatments for cystic fibrosis

There's currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, prevent complications, and make the condition easier to live with.

Possible treatments include:

antibiotics to prevent and treat chest infections

medicines to make the mucus in the lungs thinner and easier to cough up

medicines to widen the airways and reduce inflammation

special techniques and devices to help clear mucus from the lungs

medicines that help the person absorb food better

following a special diet and taking supplements to prevent malnutrition

A lung transplant may eventually be needed if the lungs become greatly damaged.

Read more about treating cystic fibrosis

Outlook for cystic fibrosis

Cystic fibrosis is a progressive condition, which means it tends to get worse over time.

Eventually the condition can be fatal if it leads to a serious infection or the lungs stop working properly.

The outlook for cystic fibrosis has improved considerably in recent years because of advancements in treatment, although most people with cystic fibrosis will have a shorter-than-average life expectancy.

Currently, about half of the people with cystic fibrosis will live past the age of 40. Children born with the condition nowadays are likely to live longer than this.

Information about you

If you or your child has cystic fibrosis, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
Find out more about the register

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Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus. It can cause problems with breathing and digestion from a young age. Over many years, the lungs become increasingly damaged and may eventually stop working properly.

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Two new studies from the University of Iowa suggest that gene therapy may be a viable approach for treating or preventing lung disease caused by cystic fibrosis (CF).

Working with CF pigs, the researchers, based in the UI Pappajohn Biomedical Institute (PBI), have shown that two different virus-based vectors can restore a working version of the cystic fibrosis transmembrane conductance regulator (CFTR) protein that is faulty in CF to the pigs' airway cells. Moreover, this gene replacement normalized important aspects of the lung biology and improved the ability of airway secretions to kill bacteria.

"This is an important proof of principle for the idea that gene therapy for CF could work because we used an animal model that we know develops lung disease like people," says Paul McCray, Jr., professor of pediatrics in the UI Carver College of Medicine and principal investigator for one of the studies, which both were published Sept. 8 in the journal JCI Insight. "In our short term experiments we saw evidence of correction of some of the known problems of CF, including salt movement across the cell membrane, the pH (acidity) of the airway surface liquid, and the ability of respiratory secretions to kill bacteria. This shows that the gene therapy has an effect that appears to be therapeutically relevant."
New animal model key for CF research
Despite the simplicity of the gene therapy concept -- replace a disease-causing gene with a normal version -- safely delivering genes to the correct cells so that they produce sufficient amounts of the replacement protein to treat a disease has proved difficult to achieve.

For CF, one significant hurdle has been the lack of a good animal model to test the therapeutic outcomes of gene therapies. Mice with CF do not get the lung disease that is the major cause of illness and death in human patients.

In 2008, CF researchers at the UI led by Michael Welsh, director of the PBI and a Howard Hughes Medical Institute investigator, made a major advance by creating a pig model of CF, which unlike CF mice, develops the lung disease that mimics the symptoms seen in people.

"The pig model allows us to look at the the effect of gene therapy on lung disease and ask whether the gene rescue also improves the lung problems caused by CF," says Joseph Zabner, UI professor of internal medicine.
Gene therapy partially corrects CF lung problems
In the new studies two teams tested two different gene therapy strategies to get functional CFTR into the airway cells of CF pigs. One group led by McCray and Patrick Sinn, UI research associate professor of pediatrics and director of the UI Viral Vector Core, focused on a lentivirus. This type of virus has been successfully and safely used as a gene therapy vector for patients with rare immune diseases. A major advantage of lentiviruses is the delivered gene is directly incorporated (integrated) in to the cell's genome, meaning the fix is permanent. However, it is challenging to produce large quantities of lentivirus, and this virus has not yet been tested for safety in human lungs.

The other research team, led by Zabner and David Schaffer at University of California, Berkeley, focused on an adeno-associated virus AAV2. AAVs are safe for use in humans, including human lungs, and relatively easy to produce in large quantities. Genes delivered by AAV vectors are not permanently incorporated into the cell's genome, but expression of the gene is often long-lived.

An important aspect of the AAV study was the molecular customization of the virus such that it efficiently targeted pig airway cells. Zabner and Schaffer created a AAV2 virus with five mutations that was 240 times more efficient than AAV2 at infecting pig airway cells. The team previously used the same directed evolution strategy to create an AAV virus that preferentially infects human airway cells.

The researchers showed that both gene therapies restored chloride currents in pig airway cells indicating that both vectors delivered working CFTR to the correct location in the airways. Both approaches also increased the pH and the bacterial killing ability of the airway secretions.

"Gene therapy development has experienced ups and downs and for CF there has been a long period with few clinical studies," McCray notes. "But a non-viral gene therapy trial was completed recently in the UK, and we've also started to see successes in other single-gene diseases. With these results and all we have learned about getting the CFTR gene into the right place, there is renewed interest in moving forward with CF gene therapy again."

Sinn adds that the new findings may move researchers closer to a "tipping point" for initiating clinical trials.

The vectors the UI researchers are developing could also have uses beyond CF gene therapy as multifaceted gene delivery tools.

"If anyone wants to use gene editing, including CRISPR-Cas9, they need a way to deliver it to cells. Vectors like these are the key to that," Zabner says.
Gene therapy for CF?
When the UI team started their gene therapy work more than 20 years ago there were no treatments available for CF. Now, several drugs are available that help patients with specific CF mutations. However, these drugs, which are expensive and are taken daily, don't treat the majority of patients. A successful gene therapy approach would have the advantages of treating all forms of CF regardless of the genetic mutation, and potentially the therapy could be given just once to effect a permanent treatment.

"The big questions we are asked pertain to how feasible it would be to use this approach to treat people with CF. For example, how long the the gene expression last? Does it prevent disease from happening? Those questions will need longer term studies to answer," says McCray.

These studies resulted from highly collaborative team science between the UI, University of California, Berkeley and Wright State University in Ohio, and among multiple departments within the UI Carver College of Medicine. The two lead authors of the studies are both UI graduate students; Ashley Cooney in the microbiology program, and Benjamin Steines is in the molecular and cellular biology program. The research was funded in part by grants from the National Heart, Lung, and Blood institute, the National Institute for Diabetes and Digestive and Kidney Diseases, both part of the National Institutes of Health, and the Cystic Fibrosis Foundation.

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gene therapy; genes; cystic fibrosis; personalized medicine; diseases and conditions; copd; medical topics; human biology

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Gene therapy for cystic fibrosis lung disease

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Gene therapy may be a viable approach for treating or preventing lung disease caused by cystic fibrosis (CF), suggests new research. Working with CF pigs, the researchers have shown that two different virus-based vectors can restore a working version of the cystic fibrosis transmembrane conductance regulator (CFTR) protein that is faulty in CF to the pigs' airway cells.

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A new partnership in the UK will develop a gene therapy for cystic fibrosis that could treat the disease with a single dose.
Cystic fibrosis is a genetic disease that causes mucus to build up in a patient's lungs. As a result, patients suffer from blocked airways and bacterial infections. While treatment advances have increased the life expectancy of patients, most of them only live to the age of 40. Furthermore, there is still no cure for the disease.

Now, a set of industry collaborations could help bring a gene therapy developed by the UK Cystic Fibrosis Gene Therapy Consortium into clinical testing. The treatment uses a type of virus called a lentivirus to deliver a healthy copy of a gene called CFTR, which causes cystic fibrosis when it carries a mutation. The gene therapy will be given by inhalation to better target the right cells.

The consortium has established a collaboration with the British biotech Oxford BioMedica, which will take care of the development of the gene therapy and scaling up the manufacturing process. A third partner, Imperial Innovations, will act as the tech transfer office, helping secure the intellectual property.

In a separate agreement, Oxford BioMedica granted Boehringer Ingelheim the option to license the exclusive global rights to manufacture, register and commercialize the lentiviral gene therapy technology for cystic fibrosis.

Over 1,700 different mutations have been identified in the CFTR gene that can cause cystic fibrosis, and gene therapy may be the most effective way to combat all of them at once. Nonetheless, gene therapies for treating cystic fibrosis are still in their early stages of development.

In 2015, the UK Cystic Fibrosis Gene Therapy Consortium was the first to show that repeated doses of a gene therapy delivered in fat droplets could be effective in treating cystic fibrosis in a Phase IIb trial, but the therapy was not equally effective in all patients. In comparison, the approach of the new gene therapy the consortium will develop will only require one dose to have a therapeutic effect .

Gene therapy is not the only approach biotechs are using to treat cystic fibrosis. For example, the Dutch biotech ProQR is developing a drug that binds to mutated RNA of the CFTR gene to restore the production of a healthy CFTR protein. London biotech Verona Pharma recently obtained positive Phase II results for a drug that simultaneously inhibits two enzymes in order to reduce inflammation, clear mucus membranes and dilate the lungs.
Images by Lightspring/Shutterstock

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New Gene Therapy Could Treat Cystic Fibrosis With One Dose

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A new partnership in the UK will develop a gene therapy for cystic fibrosis that could treat the disease with a single dose. Cystic fibrosis is a genetic disease that causes mucus to build up in a patient's lungs. As a result, patients suffer from blocked airways and bacterial infections.

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Some include antibiotics, anti-inflammatories, and bronchodilator. Those can all help clear the mucus. There are some gene therapy treatments for CF. One is called Cystic Fibrosis Therapy Consortium.

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Some include antibiotics, anti-inflammatories, and bronchodilator. Those can all help clear the mucus. There are some gene therapy treatments for CF. One is called Cystic Fibrosis Therapy Consortium.

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In a sweat test, the look for the concentration of chloride that is in the sweat. Then that is evaluated with other people with CF. Right now there is no cure for CF, but there are some medications that help.

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In a sweat test, the look for the concentration of chloride that is in the sweat. Then that is evaluated with other people with CF. Right now there is no cure for CF, but there are some medications that help.

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This disorder is diagnosed by doing some test. These tests can include genetic test, blood test, or sweat test. 

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This disorder is diagnosed by doing some test. These tests can include genetic test, blood test, or sweat test. 

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 The function of the normal protein is able for the respiratory systems bring oxygen in the body and get rid of carbon dioxide and waste.

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 The function of the normal protein is able for the respiratory systems bring oxygen in the body and get rid of carbon dioxide and waste.

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The abnormal proteins cilia can't move the mucus out and it blocks the air way. When it blocks the air way it can cause lung infections.

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The abnormal proteins cilia can't move the mucus out and it blocks the air way. When it blocks the air way it can cause lung infections.

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The reason that causes CF is that there is a mutation in the gene that makes a protein call CFTR (Cystic Fibrosis Transmembrane Regulator.)Chromosome 7 is the chromosome that is affected.

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The reason that causes CF is that there is a mutation in the gene that makes a protein call CFTR (Cystic Fibrosis Transmembrane Regulator.)Chromosome 7 is the chromosome that is affected.

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CF is pretty common, 30,000 people in the US have it. They get usually about 1,000 new cases a year. It affect men and women equally. 

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CF is pretty common, 30,000 people in the US have it. They get usually about 1,000 new cases a year. It affect men and women equally. 

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Some symptom of CF (cystic fibrosis) are malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

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Some symptom of CF (cystic fibrosis) are malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

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Cystic Fibrosis is when a large build up of mucus inside the lungs. It interferes with some of the normal functions of the body. This disease mainly affects the lungs, pancreas, and intestines. 

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Cystic Fibrosis is when a large build up of mucus inside the lungs. It interferes with some of the normal functions of the body. This disease mainly affects the lungs, pancreas, and intestines. 