[{"command":"openDialog","selector":"#drupal-modal","settings":null,"data":"\u003Cdiv id=\u0022republish_modal_form\u0022\u003E\u003Cform class=\u0022modal-form-example-modal-form ecl-form\u0022 data-drupal-selector=\u0022modal-form-example-modal-form\u0022 action=\u0022\/en\/article\/modal\/9208\u0022 method=\u0022post\u0022 id=\u0022modal-form-example-modal-form\u0022 accept-charset=\u0022UTF-8\u0022\u003E\u003Cp\u003EHorizon articles can be republished for free under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.\u003C\/p\u003E\n \u003Cp\u003EYou must give appropriate credit. We ask you to do this by:\u003Cbr \/\u003E\n 1) Using the original journalist\u0027s byline\u003Cbr \/\u003E\n 2) Linking back to our original story\u003Cbr \/\u003E\n 3) Using the following text in the footer: This article was originally published in \u003Ca href=\u0027#\u0027\u003EHorizon, the EU Research and Innovation magazine\u003C\/a\u003E\u003C\/p\u003E\n \u003Cp\u003ESee our full republication guidelines \u003Ca href=\u0027\/horizon-magazine\/republish-our-stories\u0027\u003Ehere\u003C\/a\u003E\u003C\/p\u003E\n \u003Cp\u003EHTML for this article, including the attribution and page view counter, is below:\u003C\/p\u003E\u003Cdiv class=\u0022js-form-item form-item js-form-type-textarea form-item-body-content js-form-item-body-content ecl-form-group ecl-form-group--text-area form-no-label ecl-u-mv-m\u0022\u003E\n \n\u003Cdiv\u003E\n \u003Ctextarea data-drupal-selector=\u0022edit-body-content\u0022 aria-describedby=\u0022edit-body-content--description\u0022 id=\u0022edit-body-content\u0022 name=\u0022body_content\u0022 rows=\u00225\u0022 cols=\u002260\u0022 class=\u0022form-textarea ecl-text-area\u0022\u003E\u003Ch2\u003ECurrently there\u2019s no cure for rare types of cystic fibrosis, but researchers are making significant advances\u003C\/h2\u003E\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\n\n\u003Cp\u003EA decade ago, few cystic fibrosis patients lived beyond their teens. Thanks to a breakthrough in treatment options, for most patients with access to modern medicines, cystic fibrosis (CF) is no longer the catastrophic disease it once was. However, for 15% of people with CF, the cellular defect that causes their disease remains untreatable. For these patients, drugs are available to treat some of the symptoms of CF, but the condition continues to wreak havoc with their organs, resulting in premature death.\u003C\/p\u003E\n\n\u003Cp\u003EAn EU-funded research project \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/755021\u0022\u003EHIT-CF\u003C\/a\u003E aims to change this by improving both the quality of life and the disease prognosis for people with ultra-rare varieties of CF. In Europe, there are an estimated 5,250 people who fall into this category.\u003C\/p\u003E\n\n\u003Cp\u003EThe project, launched in January 2018, brings together researchers, doctors, pharmaceutical companies and patient representatives, with the aim of developing drugs and drug combinations that are matched with a high degree of precision to a patient, regardless of the rarity of their form of the disease. Such personalised medicine is possible thanks to a new approach to drug testing involving the creation of mini-organs in the lab using a patient\u2019s own stem cells. These \u2018\u003Ca href=\u0022https:\/\/erj.ersjournals.com\/content\/54\/1\/1802379\u0022\u003Eorganoids\u003C\/a\u003E\u2019 are genetic replicas of organs found inside the patient\u2019s body and can be used to test how responsive a person\u2019s cells are to specific pharmaceutical compounds.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018We\u2019re effectively shifting therapeutic trials from patients to the laboratory,\u2019 explained Kors van der Ent, professor in paediatric pulmonology at the University Medical Centre, Utrecht in the Netherlands, and coordinator of the multi-disciplinary HIT-CF project.\u003C\/p\u003E\n\n\u003Cp\u003ETo date, scientists involved in the project have grown organoids from 500 European patients with ultra-rare forms of CF. Ultra-rare can mean that just one or two people worldwide share the same form of the disease.\u003C\/p\u003E\n\n\u003Cp\u003EDescribing his team\u2019s work with organoids, Professor van der Ent said: \u2018We\u2019ve asked pharmaceutical companies to hand over drugs from their development pipelines so we can test these compounds against the organoids. These drug candidates target the basic protein defect involved in cystic fibrosis.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018What is special about this work is that it means we can create highly personalised treatments for patients with rare mutations. What\u2019s also special is that we can mix and match compounds from different companies to see if patients are responsive to a certain combination of drugs.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EFrom April, the project\u2019s clinicians will start testing compounds that have proven to be effective on organoids on real-life patients. \u2018We expect these patients to respond well,\u2019 said Professor van der Ent. \u2018We hope that within five years, these patients will have new drugs.\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003ETargeting the cystic fibrosis gene\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EOne in 35 people carries the faulty gene that causes CF \u2013 usually without knowing. Two people carrying the faulty gene have a 25% chance of having a child born with the disease. Without modern treatment, most people born with CF do not live long beyond their thirties.\u003C\/p\u003E\n\n\u003Cp\u003EUntil recently, the only way to treat CF was with antibiotics to fight infection, steroids to reduce inflammation, physiotherapy to clear airways, exercise, nutrition and transplants (of the lungs, liver and sometimes other organs). Although the disease still remains incurable, since 2012, a new class of drugs called modulators has transformed treatment for many.\u003C\/p\u003E\n\n\u003Cp\u003ECFTR modulators target specific defects in the CFTR protein, thereby restoring healthy function of the protein so that chloride (which is present in salt) can flow across the cell surface. To date, \u003Ca href=\u0022https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7046560\/\u0022\u003Efour such modulators have reached the market\u003C\/a\u003E, and these drugs are both transforming the quality of patients\u0027 lives and lengthening their lifespan substantially.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018Thanks to these drugs, in some patients there\u2019s a lung-function improvement of 30-40% and life expectancy can increase from the age of 30-40 to 60-80,\u2019 said Professor van der Ent. \u2018In other words, there can be a normal life expectancy.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EOne significant downside of CFTR modulators is their price: treatment costs up to \u20ac200,000 per patient per year. As a result, only patients in countries with a well-funded health service can access medication. Meanwhile, many patients in Eastern Europe, along with other less developed parts of the world, are missing out.\u003C\/p\u003E\n\n\u003Cp\u003EAnother drawback \u2013 and one that HIT-CF aims to address \u2013 is that CFTR modulators are only being clinically tested in patients with well-described, common mutations of CF. There are up to 2,000 genetic mutations that lead to CF, but just 120 of these are responsible for 80-85% of disease occurrence. It is patients with these common forms of the condition who are able to benefit from the CFTR modulators currently on the market.\u003C\/p\u003E\n\n\u003Cp\u003ESo why are patients with rare mutations being left behind? The high cost of clinical trials means it simply does not make commercial sense for drug companies to focus their efforts on this sub-group of CF patients.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EStep in organoid technology\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EScientists involved in the HIT-CF project are taking tissue samples from the rectum of patients with rare forms of CF, isolating stem cells, and growing these to form mini-intestines.\u003C\/p\u003E\n\n\u003Cp\u003EThere are two major advantages of using organoids to screen potential drugs: there are no safety considerations for the patient, and the screening process is highly efficient (any number of compounds from a library of potential drug candidates can be thrown at an organoid, and at speed). As a result, the potential cost savings are vast. For participants of the HIT-CF project, this is great news.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018This study is giving people who have been excluded from clinical studies the chance to be recruited for a study and to find medicines that will tackle the causes of their disease,\u0027 said Dr Elise Lammertyn, head of research at the European federation of national CF patient organisations\u0026nbsp;\u003Ca href=\u0022https:\/\/www.cf-europe.eu\/\u0022\u003ECystic Fibrosis Europe\u003C\/a\u003E, a partner in the HIT-CF project.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018There are quite a few (conventional) clinical trials going on in Europe for cystic fibrosis, but most of these are only open to those with the most common mutations of the disease, and the 10-15% of people with ultra-rare mutations are left out in the cold. This new study is about personalised medicine at its most innovative.\u2019\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EUniversal access to treatment\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EProf. van der Ent, in partnership with other scientists involved in CF research, is set to launch Fair Therapeutics \u2013 a company that will set out to use organoid technology to bring CF drugs to market for patients with both common and rare mutations, at affordable prices.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018In a sense we\u2019ll be competitors to big pharma but actually we will all be working towards the same goal of reaching all CF patients,\u2019 said Professor van der Ent.\u003C\/p\u003E\n\n\u003Cp\u003EFirst, however, the project scientists must acquire permission from the European Medicines Agency (EMA) to approve organoid testing so it can be used beyond the current study. \u2018It will be very helpful to have a test in the lab that can be used in conjunction\u0026nbsp;with less lengthy clinical trials to prove the effectiveness of drugs in small groups of people,\u2019 said Professor van der Ent. \u2018It will highly speed up the pipeline of new drugs for all kinds of diseases, not just CF. It could even be used as a predictive tool for cancer treatment: you do a biopsy of a tumour, add chemotherapy and other drugs to the organoid, and then use the most sensitive treatment on the tumour.\u2019\u0026nbsp;\u003C\/p\u003E\n\n\u003Ch5\u003EThe research in this article was funded by the EU. If you liked this article, please consider sharing it on social media.\u003C\/h5\u003E\n\n\u003Cp\u003E\u003Cdiv class=\u0022tw-text-center tw-bg-bluelightest tw-p-12 tw-my-12 tw--mx-16\u0022\u003E\n \u003Ch3 class=\u0022tw-font-sans tw-font-bold tw-text-blue tw-uppercase tw-text-lg tw-mb-8\u0022\u003EEU research on rare diseases\u003C\/h3\u003E\n \u003Cspan class=\u0022tw-inline-block tw-w-1\/6 tw-h-1 tw-bg-blue tw-mb-8\u0022\u003E\u003C\/span\u003E\n \u003Cp\u003EThe area of rare diseases has long been a priority area for the EU, and is recognised as a field where EU and international collaboration is an indispensable condition to progress.\u003C\/p\u003E\r\n \u003Cp\u003E The European Commission, through its funding via successive framework programmes for research and innovation and its\u0026nbsp;\u003Ca href=\u0022https:\/\/ec.europa.eu\/info\/research-and-innovation\/research-area\/health-research-and-innovation_en\u0022\u003EHealth\u003C\/a\u003E\u0026nbsp;research policy, supports the development of new treatments and diagnostics for\u0026nbsp;\u003Ca href=\u0022https:\/\/ec.europa.eu\/info\/research-and-innovation\/research-area\/health-research-and-innovation\/rare-diseases_en\u0022\u003Erare diseases\u003C\/a\u003E\u0026nbsp;across Europe.\u003C\/p\u003E\r\n \u003Cp\u003E Under Horizon Europe (2021-2027), the new research and innovation funding programme, a proposed European Partnership on rare diseases is expected to catalyse a systemic transformation in the area. It will coordinate national, local and European research and innovation programmes with the goal of developing diagnostics and treatments to improve the quality of life for people living with rare diseases.\u003C\/p\u003E\n\u003C\/div\u003E\n\u003C\/p\u003E\n\u003C\/textarea\u003E\n\u003C\/div\u003E\n\n \u003Cdiv id=\u0022edit-body-content--description\u0022 class=\u0022ecl-help-block description\u0022\u003E\n Please copy the above code and embed it onto your website to republish.\n \u003C\/div\u003E\n \u003C\/div\u003E\n\u003Cinput autocomplete=\u0022off\u0022 data-drupal-selector=\u0022form-5r5f0kcj07jzjuyrocobot0clvt9g3pccs8zmnzhc9k\u0022 type=\u0022hidden\u0022 name=\u0022form_build_id\u0022 value=\u0022form-5R5F0kcJ07JzjUYROcOboT0CLvT9g3pCCS8ZMNzhC9k\u0022 \/\u003E\n\u003Cinput data-drupal-selector=\u0022edit-modal-form-example-modal-form\u0022 type=\u0022hidden\u0022 name=\u0022form_id\u0022 value=\u0022modal_form_example_modal_form\u0022 \/\u003E\n\u003C\/form\u003E\n\u003C\/div\u003E","dialogOptions":{"width":"800","modal":true,"title":"Republish this content"}}]