Is it possible to cure cystic fibrosis

A lung transplant may eventually be needed if the lungs become greatly damaged. Read more about treating cystic fibrosis. 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 Children born with the condition nowadays are likely to live longer than this. 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. Cystic fibrosis can cause a range of problems. The lungs and digestive system are the main areas that are affected.

Symptoms tend to start in early childhood, but sometimes they can develop soon after birth and very occasionally they may not be obvious until adulthood. Nowadays, cystic fibrosis is usually diagnosed before symptoms appear, through screening tests carried out soon after birth. Read more about screening for cystic fibrosis.

The mucus can also block parts of the digestive system, which can affect how food travels through the gut and how it's broken down or absorbed. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways — particularly the lungs and digestive system. To be born with cystic fibrosis, a child has to inherit a copy of the faulty gene from both of their parents.

This can happen if the parents are 'carriers' of the faulty gene. This means they don't have cystic fibrosis themselves, but they can have a child with the condition if their partner also carries the faulty gene. It's estimated that around 1 in every 25 people in the UK are carriers of the faulty gene that causes cystic fibrosis. Most cases are now detected soon after birth through newborn screening, but older children and adults with symptoms of cystic fibrosis who weren't screened can also have tests to check for the condition.

Tests to find out if you are a 'carrier' of the faulty gene responsible for cystic fibrosis may also be recommended for some people. A newborn blood spot test is offered to all babies in Scotland to help detect problems early on, including cystic fibrosis. When your baby is five to eight days old, a health professional will prick their heel and collect drops of blood on a special card.

The blood is then sent to a laboratory to be checked for abnormalities that could indicate cystic fibrosis. You should receive the results by the time your baby is six to eight weeks old. You will be contacted sooner if a problem is found, and you'll be asked to attend a hospital appointment. You, your partner and any other children you have may also be tested to see if you carry the faulty gene that causes cystic fibrosis.

Tests to confirm a diagnosis will be carried out if screening suggests that your child may have cystic fibrosis, or your doctor thinks you could have the condition and you haven't been screened previously. The sweat test is most commonly used, although genetic testing may be done if the sweat test result is inconclusive or to identify the specific genetic fault that's causing the condition.

In integrating gene therapy, a piece of DNA that contains a correct version of the CFTR gene would be delivered to an individual's cells. The new copy of the CFTR gene would then become a permanent part of their genome, which is the entire set of genetic instructions that is in every cell. This kind of gene therapy is similar to binding a new page into an existing book. An advantage of an integrating gene therapy is that it is permanent.

A disadvantage is that we may have limited control over where the new copy of the CFTR gene integrates into the genome. The new copy could be inserted into a part of the genome that contains some critical information, like the new page being randomly added to a book and disrupting an important chapter. This means integrating gene therapy could have undesirable side effects, such as increasing the risk of cancer.

A type of integrating gene therapy, known as CAR-T therapies, has already been approved to treat patients with certain kinds of leukemia and lymphoma. An integrating gene therapy to treat CF is being tested in animals, and a clinical trial to test the safety of this therapy in people with CF could happen in the next several years.

This is like placing a new page between the covers of an existing book without permanently attaching it. A major advantage of this approach is that the non-integrating gene therapy does not disrupt the rest of the genome, just like adding a new page right under the cover of a book would not disturb the contents of the rest of the book. That means that the risk of side effects, including cancer, is low. A disadvantage of non-integrating gene therapy is that it is not permanent.

Because of this, the effect of the gene therapy might last only for several weeks or months. A person with CF would probably need to be treated with the gene therapy repeatedly for it to be effective. Treatment may include:. CFTR modulator therapies. CFTR cystic fibrosis transmembrane regulator is the protein that is not formed correctly in people with CF.

There are new CFTR modulator therapies that are designed to correct the function of the defective protein made by the CF gene. These proteins are only appropriate for certain people with CF. They only help people with certain genetic abnormalities. Chest physical therapy. Moreover, individuals with cystic fibrosis have mutations in both of their CFTR genes, so different people have different combinations of mutations. Henry turned out to have an ultra-rare mutation in both copies of his CFTR gene.

The past decade has brought huge breakthroughs in drug treatments for cystic fibrosis. Ivacaftor was the first drug to treat the underlying cause of cystic fibrosis by rescuing the function of the protein made by CFTR , and more drugs that act in a similar way have arrived since then.

Although this sounds like only a minor improvement, patients say that they feel the difference with even small increases in lung function. Trikafta works for people with cystic fibrosis who have at least one copy of the Fdel mutation in their CFTR genes. Part of Nature Outlook: Cystic fibrosis. He is among those who have ultra-rare mutations in CFTR that prevent the gene from producing any protein whatsoever.

For patients like Henry, genetic therapies are the most promising hope for a healthy life. Scientists have been trying for 30 years to wield gene therapy against cystic fibrosis. Now, thanks to better vectors and other innovations in delivering genetic sequences, gene-replacement therapies are nearing clinical trials, and the field is gaining momentum.

And in April , Vertex Pharmaceuticals said that it was partnering with biotechnology company Affinia Therapeutics in Waltham, Massachusetts, to develop gene therapies for cystic fibrosis. Gene-based therapies are already being approved for other diseases. In late , for example, the FDA made headlines by approving an in vivo gene-replacement therapy called voretigene neparvovec, or Luxturna, which treats a rare form of inherited blindness.

Katie Brady says that doctors have changed their tune and are much more optimistic about gene-therapy options than they were when Henry was born. Scientists first identified 2 the CFTR gene as the culprit behind cystic fibrosis in Just one year later, two different groups 3 , 4 independently showed that it was possible to introduce the gene into ex vivo cells using a viral vector, causing the cells to produce the CFTR protein.

This proof of concept spurred research into gene therapy against cystic fibrosis using adenoviruses as viral vectors. Usually, adenoviruses would cause the common cold or other respiratory-tract infections, but the researchers used non-harmful versions and engineered them so that they carried the CFTR gene.

In , results from the first clinical trial of this approach were published 5. The trial, conducted by a team that included biologists at the University of Iowa College of Medicine in Iowa City and at the biotechnology company Genzyme in Cambridge, Massachusetts, was an early attempt at a type of therapy called gene replacement.

But the results from this first gene-therapy trial for cystic fibrosis were lacklustre — as was the case with other trials over the next several years.

Scientists began worrying that the repeated administration of the adenovirus-based treatments caused the body to produce an immune response that neutralized the virus, rendering the treatment ineffective.

Then tragedy struck. In , an year-old named Jesse Gelsinger underwent an adenovirus-based treatment for an inherited disorder. Four days later he died from a massive immune reaction called a cytokine storm. The field of gene therapy came to an abrupt halt.

When work gradually resumed, the research community ditched adenoviruses and switched to adeno-associated viruses AAVs , which were thought to cause a milder immune response. But nor did they seem to cause the massive immunological issues that arose with adenovirus vectors. Drug companies are still pursuing AAVs for cystic fibrosis treatment. The gene-therapy company 4D Molecular Therapeutics in Emeryville, California, has several AAV-based therapies in preclinical development, and Spirovant, a gene-therapy firm in Philadelphia, Pennsylvania, is also pursuing this approach.

David Schaffer, a bioengineer at the University of California, Berkeley, and a co-founder of 4D Molecular Therapeutics, says that the company uses an AAV that has been engineered to be more infectious but still harmless so it can reach more cells in the lungs.