[{"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\/9264\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\u003EThe building blocks to make rare disease treatments more common\u003C\/h2\u003E\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\n\n\u003Cp\u003EWhile each rare disease \u003Ca href=\u0022https:\/\/ec.europa.eu\/info\/research-and-innovation\/research-area\/health-research-and-innovation\/rare-diseases_en\u0022\u003Eaffects less than one person in 2,000\u003C\/a\u003E by the EU\u2019s definition, the existence of 6,000 to 8,000 such conditions means that a far more alarming one in 17 may be affected overall \u2013 or \u003Ca href=\u0022https:\/\/www.eurordis.org\/about-rare-diseases\u0022\u003E30 million EU-wide\u003C\/a\u003E.\u003C\/p\u003E\n\n\u003Cp\u003ERare diseases have, nevertheless, historically been neglected, even if awareness and action to address them have improved over time. These include \u003Ca href=\u0022https:\/\/ec.europa.eu\/info\/research-and-innovation\/research-area\/health-research-and-innovation\/rare-diseases_en\u0022\u003Emeasures\u003C\/a\u003E such as the \u003Ca href=\u0022https:\/\/www.ejprarediseases.org\/what-is-ejprd\/project-structure\/\u0022\u003EEuropean Joint Programme co-fund on Rare Diseases\u003C\/a\u003E (EJP RD) and \u003Ca href=\u0022https:\/\/ec.europa.eu\/health\/european-reference-networks_en\u0022\u003EEuropean Reference Networks\u003C\/a\u003E (ERNs).\u003C\/p\u003E\n\n\u003Cp\u003EYet there is a long way to go, said Diego Ardig\u00f2, head of research and development for global rare diseases at the pharmaceutical group Chiesi. This is especially the case when you drill down to ultra-rare diseases beyond some of the \u2018more common\u2019 ones like Duchenne muscular dystrophy (DMD) or cystic fibrosis, which affect about one in 3,000 to 4,000 people worldwide.\u003C\/p\u003E\n\n\u003Cp\u003ESome rare diseases can have a prevalence of one in half a million or even less \u2013 such as \u003Ca href=\u0022https:\/\/www.chiesi.com\/en\/chiesi-group-receives-positive-opinion-from-chmp-for-lamzede-velmanase-alfa-the-first-therapy-for-alpha-mannosidosis\/\u0022 target=\u0022_blank\u0022\u003Ealpha-mannosidosis, for which Chiesi has developed a treatment\u003C\/a\u003E. Others are not known about at all. \u2018You don\u2019t have anything: you don\u2019t have references, and you are navigating without a map and without a compass in an unexplored world,\u2019 said Ardig\u00f2.\u003C\/p\u003E\n\n\u003Cp\u003EIndeed, only 5% or fewer of rare diseases are estimated to have at least one approved treatment \u2013 known as \u201corphan\u201d therapies. It can take many years to bring these to market, with the process hindered by limited knowledge, regulatory hurdles, safety and financial risks in developing drugs for small populations, and a lack of systematic application of best practices.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003EQuantum change\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EBut companies such as Chiesi, public research funders and organisations like non-governmental patient-driven alliance \u003Ca href=\u0022https:\/\/www.eurordis.org\/\u0022 target=\u0022_blank\u0022\u003EEURORDIS\u003C\/a\u003E have moved to address this through their membership of the global collaborative initiative IRDiRC, a multinational consortium established by the European Commission and the US National Institutes of Health in 2011.\u003C\/p\u003E\n\n\u003Cp\u003EA key cornerstone of this is IRDiRC\u2019s creation of the \u003Ca href=\u0022https:\/\/orphandrugguide.org\/\u0022 target=\u0022_blank\u0022\u003EOrphan Drug Development Guidebook\u003C\/a\u003E (ODDG), published in 2020, which sought to draw together all the knowledge we have to date on developing drugs for rare diseases and \u003Ca href=\u0022https:\/\/www.nature.com\/articles\/d41573-020-00060-w\u0022 target=\u0022_blank\u0022\u003Ebuild a framework for optimal use of existing tools\u003C\/a\u003E available in Europe, Japan and the US \u2013 ultimately inspiring a \u201c\u003Ca href=\u0022https:\/\/irdirc.org\/activities\/task-forces\/orphan-drug-development-guidebook-task-force\/\u0022 target=\u0022_blank\u0022\u003Equantum change\u003C\/a\u003E\u201d in the way drugs are developed.\u003C\/p\u003E\n\n\u003Cp\u003EThe aspiration is that having such a framework will provide a starting point for reducing costs and accelerating the process, after IRDiRC acknowledged that the pace was too slow to reach its target of approval of 1,000 rare disease therapies by 2027. This also left it off course in its vision to enable all people living with a rare disease to receive accurate diagnoses, care and available therapies within a year of coming to medical attention.\u003C\/p\u003E\n\n\u003Cp\u003ETo create the ODDG, IRDiRC brought together a 22-person strong multi-stakeholder task force in 2018, including people from all fields of rare drug development.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018Diego [Ardig\u00f2] is from pharma, I\u2019m a patient representative, but we also had regulators and academics, and really all the possible perspectives,\u2019 said Virginie Hivert, therapeutic development director at EURORDIS, who acted as vice-chair of the committee responsible for the ODDG, alongside Ardig\u00f2 as chair.\u003C\/p\u003E\n\n\u003Cp\u003EThrough workshops and discussions, the \u003Ca href=\u0022https:\/\/irdirc.org\/activities\/task-forces\/orphan-drug-development-guidebook-task-force\/\u0022 target=\u0022_blank\u0022\u003Etask force\u003C\/a\u003E mapped out 110 building blocks available to orphan-drug developers for taking treatments to market, creating supporting fact sheets for each, including information on how and when to apply them. Though Hivert says this is just a start and it is too early to assess the impact so far, she is hopeful that the ODDG will be sustained and built upon, acting as a platform to accelerate development and awareness.\u003C\/p\u003E\n\n\u003Cp\u003EShe also hopes it can act as a guide for new and innovative players in the market, which are particularly crucial in the rare disease sector for developing cutting-edge treatments such as gene therapies. \u2018There are more and more non-traditional developers that are operating in the field of rare diseases, so the hope is that this guidebook will also be of great use to them,\u2019 said Hivert.\u003C\/p\u003E\n\n\u003Cp\u003EAs part of the ODDG, the task force highlighted that specific clinical development \u003Ca href=\u0022https:\/\/link.springer.com\/epdf\/10.1186\/s13023-018-0931-2?author_access_token=tLXrvNd46eIE67Uq8U9Hhm_BpE1tBhCbnbw3BuzI2RMFWvShk4Rf0xDGOYRkMUfi0Xgp8chUxYAQ4hpwngecZmaNvS9OhDHVPJwCaXhKqe7KwVhnhviXvB13_D-wuYa7vemJQVsY3dHijq_w_B6B0Q%3D%3D\u0022 target=\u0022_blank\u0022\u003Emethodologies for small groups\u003C\/a\u003E and patient-centric approaches to orphan drug development are essential, given that patients are often the people who best understand diseases and have the most experience with diseases that have little knowledge base.\u003C\/p\u003E\n\n\u003Cp\u003EThis means involving them every step of the way, from research to clinical trial design, and from regulatory processes to communication with drug developers. \u2018You cannot make developments for rare diseases without having the patients as full partners if you want to maximise the chances of success and target the right unmet needs,\u2019 said Hivert.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003ERaising the profile\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003ENick Sireau, CEO and chairman of the \u003Ca href=\u0022https:\/\/akusociety.org\/\u0022 target=\u0022_blank\u0022\u003EAlkaptonuria (AKU) Society\u003C\/a\u003E in the UK, agrees that this type of patient engagement is essential. He says things have improved in the 20 years he has been involved in the society \u2013 which started after his two sons were diagnosed with the rare genetic disease AKU, which affects 1 in 250,000 to one in a million people.\u003C\/p\u003E\n\n\u003Cp\u003EThis has been aided by patient groups such as EURORDIS, of which the AKU Society is a member. \u2018EURORDIS has managed to significantly raise awareness on rare diseases in policy and funding areas,\u2019 said Sireau. \u2018Patient groups are increasingly involved now in the development of research and medications for new diseases.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EYet Sireau thinks there is still much to do, particularly around funding. \u2018One of the things I\u2019ve been saying a lot recently is there needs to be much more funding to help rare disease patient groups really build their capacity, and their work with industry and universities.\u2019 He suggests measures such as an independent foundation into which big pharma can donate a percentage of profits for subsequent redistribution to patient groups.\u003C\/p\u003E\n\n\u003Cp\u003EFrom his own experience, Sireau also highlights the huge amount of time it can take to get treatments to market. This comes after the AKU Society saw a breakthrough via its involvement in the EU-funded \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/304985\u0022 target=\u0022_blank\u0022\u003EDEVELOPAKURE\u003C\/a\u003E project, in which a drug called \u003Ca href=\u0022https:\/\/ec.europa.eu\/research-and-innovation\/en\/horizon-magazine\/never-seen-anything-effective-not-so-new-drug-repurposed-rare-disease\u0022\u003Enitisinone\u003C\/a\u003E \u2013 repurposed from treatment for another disease called HT-1 \u2013 \u003Ca href=\u0022https:\/\/ec.europa.eu\/info\/news\/success-developakure-approval-orfadin-treat-patients-aku-2020-oct-26_en\u0022 target=\u0022_blank\u0022\u003Ewas approved in 2020\u003C\/a\u003E after it was found to also ease the symptoms of AKU.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018This was a drug that was already approved for another condition, and yet it still took us 15 years to get it all through the clinical trials and approved,\u2019 said Sireau. Despite this, he is optimistic about the success and the potential for new technologies such as mRNA therapies, which the AKU Society is looking into.\u003C\/p\u003E\n\n\u003Cp\u003E\u003Cstrong\u003ELong-term view\u003C\/strong\u003E\u003C\/p\u003E\n\n\u003Cp\u003EArdig\u00f2 hopes the collective work that has gone into forming the ODDG over the last 20 years will provide the basis for advances in the sector.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018I think the help that the guidebook can give is to provide clarity to a confused, complex and complicated field,\u2019 he said. \u2018You also have a quick reference to making tools usable.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EOne of the big hurdles to overcome in drug development is still the limited perceived profit in rare diseases, but Ardig\u00f2 points out that it is possible to generate value for developers and society, given Chiesi\u2019s own experience in the past. He says doing this requires collaboration between all stakeholders in forging a long-term view and shared understanding of what patients really need, keeping alert for drug repurposing opportunities, and treating rare drugs as a collective issue rather than each one as a single, isolated problem. He believes organisations that can do this can put themselves at the forefront of future drug development.\u003C\/p\u003E\n\n\u003Cp\u003E\u2018The area of rare diseases is a field of learning for future medicine. It has been a playfield for highly innovative technologies,\u2019 he said. \u2018There is a really big opportunity if we are able to figure out how to move into the lower scales [by tackling ultra-rare diseases].\u2019\u003C\/p\u003E\n\n\u003Cp\u003EDespite the setbacks caused by COVID-19 to research and resources for tackling rare diseases, he sees reasons for positivity after what the pandemic has shown about the potential for collaboration and acceleration of drug development. \u2018With COVID, in less than a year we got the first vaccines,\u2019 said Ardig\u00f2. \u2018We have to push for that level of collaboration \u2013 for sharing of data, for sharing of information and for working together as a community.\u2019\u003C\/p\u003E\n\n\u003Cp\u003EThough he thinks IRDiRC\u2019s target for 1,000 treatments by 2027 will be challenging in the present climate, he points out that the organisation already set a high goal of 200 new drugs in the decade from 2011, and this was reached in just six years. \u2018So maybe we\u2019ll be able to do much more than we think,\u2019 he said.\u003C\/p\u003E\n\n\u003Cp\u003EWhatever the case, there is a need to act now, said Ardig\u00f2, backed by knowledge accrued from initiatives like the ODDG. \u2018There are patients there who have these diseases today\u2026 they cannot wait, so we cannot wait.\u2019\u003C\/p\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\r\n\u003Cp\u003EThe 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\r\n\u003Cp\u003EUnder 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\r\n\n\u003C\/div\u003E\n\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\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-nbkqx3fo4dt8rhqawatrxhdzc37v7y8ja6dz1638os\u0022 type=\u0022hidden\u0022 name=\u0022form_build_id\u0022 value=\u0022form-_NBkqX3Fo4DT8rHqawatRXHDzc37V7y8jA6dz1638os\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"}}]