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Support for international rare disease research to serve the IRDiRC objectives

Final Report Summary - SUPPORT-IRDIRC (Support for international rare disease research to serve the IRDiRC objectives)

Executive Summary:
The International Rare Diseases Research Consortium (IRDiRC) unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and advance rare diseases research worldwide. Importantly, the coverage of the Consortium is global and involves stakeholders from Africa, Asia, Australia, North America, and Europe.

In order to ensure that IRDiRC had the organizational and communication support it needed to work toward its ambitious vision and accompanying three organizational goals, the European Commission funded the SUPPORT-IRDiRC project, which established the IRDiRC Scientific Secretariat. Over the past 6 years, the IRDiRC Scientific Secretariat has been an integral part of IRDiRC, by supporting the work of the Consortium at large, and therefore helping IRDiRC advancing in its goals and catalysing progress in rare diseases research.

The SUPPORT-IRDiRC project reinforced international cooperation in research on rare diseases in numerous ways, by:
- Reinforcing international cooperation in research on rare diseases through regularly organized meetings and support of coordinated actions between various stakeholders, including funding agencies, academic research groups, clinicians, regulators, companies, and patient advocacy organizations, thus facilitating the exchange of information, optimizing the use of resources, and enabling the sharing and publication of data.
- Strengthening the links between academic groups and companies to translate their efforts into new diagnostic tools and therapies.
- Encouraging and strengthening collaborations with patient advocacy organizations to ensure patients’ integral role in all relevant aspects of rare diseases research.
- Contributing to the establishment of standard policies and guidelines through support to the development of standard operating procedures, data standards, better classification of rare diseases, and interoperable computational standards and tools.
- Assisting the Consortium in knowledge management through the collection of rare disease research outcomes, monitoring policy development worldwide, measuring progress made in the field, and sharing emerging best practices in rare diseases research.
- Disseminating and communicating the IRDiRC vision, goals, activities and their outcomes to all members, the larger rare disease community, and the public by various means, including journal publications, conference presentations, press releases, newsletters and social media.

Project Context and Objectives:
In the European Union, a rare disease is defined as one that affects less than five out of every 10,000 people. Collectively, around 7,000 rare diseases in the world affect around 30 million people in the EU alone. Research in rare diseases is vital as many patients still lack proper diagnosis and left without effective treatments; it is also an area where expertise is also rare. In addition, research in this area is very relevant from the scientific point of view as rare diseases are model diseases for more common disorders and are strong drivers of innovation. However, research in this field faces specific constraints, stemming from the low prevalence that represents the defining characteristic of rare diseases, the sheer number of rare diseases, and their high phenotypic heterogeneity. Increasing the number of diagnostic and therapeutic options for patients suffering from rare diseases requires an acceleration of the identification of yet unknown critical genes, an improvement of gene defects identification, an increase in the knowledge of pathophysiology and natural history of rare diseases, an identification of potential therapeutic targets, discovery of new biomarkers, and definition of appropriate surrogate end-points to adequately evaluate treatments and therapies.

A global coordination of efforts is necessary to raise substantial investment. This awareness has led to the launch of the International Rare Diseases Research Consortium (IRDiRC), whose mission is to coordinate and foster international collaborative research on rare diseases, with the vision to “enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.” The idea behind the creation of IRDiRC is to provide a framework for the international effort with a development of necessary policies that will foster international collaboration. Policies in priority areas of research will allow the coordination of rare disease research worldwide in order to avoid duplication, fragmentation, redundancy and research gaps, and therefore ensure rapid translation of results from invested research into diagnostics and treatments that are beneficial to patients.

The overall objective of SUPPORT-IRDiRC – more widely known as IRDiRC Scientific Secretariat – was to provide organisational and communication support to IRDiRC and its members, and thereby contribute to the development of policies and guidelines aimed at accelerating research on rare diseases and reinforcing international research cooperation.

Thus SUPPORT-IRDiRC focused on:

- Supporting the work of the different IRDiRC Committees, including a Consortium Assembly, an Operating Committee, three Scientific Committees, three Constituent Committees, and various Task Forces, organising meetings and teleconferences, by assuring secretarial work. The Scientific Sectariat aimed to provide secretarial assistance to the IRDiRC bodies by organising meetings and teleconference, providing preparatory documents, writing relevant reports, and ensuring the liaison between the different bodies to optimise their complementary activities which contribute to the common goals and assures a smooth organisation of the Consortium’s work.

- Supporting the advances in research on rare diseases by collecting and diffusing pertinent information and results to IRDiRC members and the wider rare diseases community, and facilitate cooperation with other stakeholders and other projects. Therefore, one of the aims of the project was to improve the communication between stakeholders in the field of rare diseases through the collection and dissemination of (1) information related to the project funded by IRDiRC members, (2) relevant guidelines and policies, and (3) publications on relevant projects, through the IRDiRC website for all stakeholders, as well as a private website for members of the Consortium Assembly, Scientific Committees and Working Groups.

- To achieve an effective dissemination of IRDiRC activities and research initiatives, and of progress towards the IRDiRC goals through IRDiRC websites, newsletters, and other dissemination tools. These were aimed to include, among others, a graphical chart, a public and private website, flyers, posters, but also the organisation of conferences and meetings.

- Management of the SUPPORT-IRDiRC project itself, by setting up an effective management framework for the project and ensure the oversight, coordination and monitoring of the project in order to deliver as planned. One of the main aspects of this objective was to set up a work plan, and to keep this workplan updated throughout the project.

Project Results:
SUPPORT-IRDiRC achieved significant results throughout the past six years, supporting the International Rare Diseases Research Consortium in all its activities, thereby being an intrisincic part of the Consortium.

Main achievements are:

- As the SUPPORT-IRDiRC project started shortly after the establishment of IRDiRC in 2011, its first task was the established of work procedures for each of the IRDiRC bodies (Consortium Assembly (formerly Executive Committee), Scientific Committees, Constituent Committees, Task Forces and Working Groups) in agreement with the Chairs of the Committees. These procedures have been regularly updated, to have a clear, written set of procedures, in reference to the IRDiRC Governance.

- Instituting a regular communication with and between the Chairs of the Consortium Assembly, Constituent Committees, Scientific Committees and the Scientific Secretariat to ensure smooth running of the Consortium and its activities.

- Providing secretarial assistance to IRDiRC bodies: maintaining up-to-date member and circulation lists, providing agenda and preparatory documents of meetings and teleconferences as agreed by the Chair of each committee, drafting reports of meetings and teleconferences, and inviting new Scientific Committee and Task Force members.

- Instituting three new Constituent Committees, one each for Funders, Companies and Patient Advocates, to address common challenges in these constituent spaces and identify solutions in order to contribute to IRDiRC goals.

- Supporting organisation of meetings and teleconferences of IRDiRC bodies, including:
o Consortium Assembly (formerly Executive Committee): 15 face-to-face meetings, 4 face-to-face joint meetings with the Scientific Committees, and 18 teleconferences
o Operating Committee: 35 teleconferences
o Scientific Committees: 22 face-to-face individual committee meetings, 4 face-to-face joint Scientific Committees meeting, 30 teleconferences, several ad hoc work planning teleconferences and meetings with leadership of the Scientific Committees
o Constituent Committees: 11 face-to-face individual committee meetings (breakout sessions of Consortium Assembly meetings), 18 teleconferences
o Task Forces: 34 group teleconferences, several individual sub-group discussions, 9 workshops, preparation of background documents to support work of Task Forces
o Working groups (terminated in Period 2): 47 group teleconferences

- A roadmap was developed, with the Operating Committee and the Scientific Secretariat, with Activities and Task Forces for each Committee, including several transversal activities, in order to contribute to the IRDiRC 2017-2027 Goals. This roadmap helped to put in perspective all the different IRDiRC activities the various committees are working on.

- Organizing several elections for the different committees, to elect new Chairs and/or Vice Chairs, for the Consortium Assembly, the Constituent Committees, and the Scientific Committees. Elections usually took 4-8 weeks, and where followed by leadership calls organized by the Scientific Secretariat, in order to ensure that the transition was efficient.

- Fostering collaborations in the field of rare diseases through drafting of background documents, organising workshops, writing of workshop report and recommendations, and assisting in drafting of articles of the following selected topics:
o Matchmaker Exchange: workshop on 7-8 October 2015
o Automatable Discovery and Access: workshop on 9-10 November 2015
o Patient-Centered Outcome Measures: workshop on 30 November 2015
o Small Population Clinical Trials: workshop on 3 March 2016
o Data Mining and Repurposing: workshop on 16 November 2016
o Privacy-Preserving Record Linkage: workshop on 8-9 December 2016
o Solving-the-Unsolved: workshop on 25 March 2018
o Model Consent Clauses for Rare Diseases: workshop on 6-7 September 2018
o Orphan Drug Development Guidebook: workshop on 12-13 December 2018

- Developing and updating communication tools, including a logo, graphical chart, flyers, posters, presentation slide decks, monthly newsletters, a social media account and public and private website to keep members of the consortium as well as the public informed. The public website ( was created in order to inform all rare diseases stakeholders of IRDiRC, its activies, its resources, news and events, how to contact us, and information on funding from members. A password-protected private website was launched to facilitate communication among IRDiRC members, and contains all full reports of all Committees for consultation.

- Promoting IRDiRC activities and initiatives at international scientific meetings through lectures, poster presentations, and the presence of an IRDiRC booth.

- - Performing online satisfaction surveys of the IRDiRC Consortium Assembly and Scientific Committees on the performance of the Scientific Secretariat. These results were presented at the Consortium Assembly and Scientific Committee meetings, and helped to improve the functioning of the Scientific Secretariat.
- In order to facilitate the cooperation between the stakeholders in the field of rare diseases, SUPPORT-IRDiRC collected information on research projects funded by IRDiRC members for diffusion on the IRDiRC public website ( and the Orphanet website. In addition, other data collection included policies and guidelines relevant to the field, and scientific and policy news, for dissemination on the IRDiRC public website and the Orphanet websites. The collected data provide relevant information to IRDiRC bodies in order to determine the gaps and opportunities in the field of rare disease, and to suggest actions that foster research in this field to help IRDiRC to reach its goals.

- Writing and publishing the IRDiRC’s annual “State of Play” report which aims to inform stakeholders at large of developments in the field of rare diseases research in order to support decisions of policy makers and research funders, as well as to inform the rare diseases community at large of the achievements and of observed trends which shape the future of research and development for rare diseases. It is based on a systematic survey of published articles, in scientific journals and press releases. The “State of Play of Research in the field of Rare Diseases” reports covered the periods 2012-2014; 2014-2015; and 2016-2018.

- In order to track the initial IRDiRC goals, and the IRDiRC 2017-2027 Goals, the Scientific Secretariat tracked and updated outcome indicators of diagnostics and therapies goals on a regular basis and provided the information on the IRDiRC public website. A publication is currently under preparation based on the analysis of all orphan medicinal products that reached the market during the initial IRDiRC Goals.

- With the incredible progress on the initial goals, three new goals for the next ten-year period were developed, one for diagnostics, one for therapies, one on diagnostics, one on therapies, and one on impact. In addition, an overall vision was developed.

- Coordinating “IRDiRC Recognized Resources” (formerly “IRDiRC Recommended”) effort in collaboration with the IRDiRC Scientific Committees. Since its launch, 20 resources have been accepted, 7 rejected, and 1 is currently under review.

- The organization of IRDiRC Conferences
Assisting in the organisation of the 1st IRDiRC Conference in Dublin, Ireland, that was hosted and organised by the European Commission
Co-hosting and co-organising with the BGI the 2nd IRDiRC Conference in Shenzhen, China, a meeting attended by over 600 speakers and participants.
Organising the 3rd IRDiRC Conference in Paris, France; this conference was attended by about 300 speakers and participants.

- Co-organising IRDiRC sessions/speakers at other international meetings:
International workshop on rare disease system for pathogenicity inference” 2013, Dublin, Ireland
Rare genetic diseases: diagnosis and discovery workshop, 2013 Prague, Czech Republic
ICORD 2014 in Ede, the Netherlands
RE(ACT) 2016 in Barcelona, Spain
13th International Congress of Human Genetics in Kyoto, Japan: specific IRDiRC session
European Congress for Rare Diseases (ECRD) 2016 in Edinburgh, Scotland
European Congress for Rare Diseases (ECRD) 2018 in Vienna, Austria

- Publishing in peer-reviewed journals: 13 articles published, 2 articles in review, 3 articles in preparation for submission. For some of these articles, the Sci Sec drafted first versions of the paper, for others it helped proof-reed or review.

- Management of the SUPPORT-IRDiRC project itself through coordinated action and work plans, communication with personnel who provided in-kind contribution, monthly management meeting and report. Following the election of Dr Christoper Austin as Chair of the Consortium, and a change in coordination, the Scientific Secretariat met every fortnight to review action plan of each staff and solve practical problems. For every alternate fortnight, the Scientific Secretariat holds teleconference with the Chair of the Consortium Assembly who oversees its activities and work plans. In addition, the Scientific Secretariat also discussed its activities and work plans at the IRDiRC Consortium Assembly meetings as the Scientific Secretariat is intended to support IRDiRC activities and implement decisions that were made by IRDiRC committees. In addition, a work plan tracker, that includes a six-month work plan of all activities for every Committee and the Scientific Secretariat, is presented at every Operating Committee, and is accessible for Operating Committee members at all times.

Potential Impact:
Increasing the number of diagnostic and therapeutic options for patients suffering from rare diseases requires an acceleration of the identification of yet unknown critical genes, an improvement of gene defects identification, an increase in the knowledge of pathophysiology and natural history of rare diseases, an identification of potential therapeutic targets, discovery of new biomarkers and definition of appropriate surrogate end-points to adequately evaluate treatments and therapies. This require international collaborative research in rare diseases to avoid duplication, fragmentation, redundancy and research gaps, and therefore ensure rapid translation of results from invested research into diagnostics and treatments that are beneficial to patients.

One of the results is the reinforcement of international cooperation in research on rare diseases, through the development of policies and guidelines aimed at accelerating such research. This was reached by reinforcing international cooperation between funding agencies, between academia, industry and patient organisations, as well as between and within research groups/clinicians. In recent years, collaborations between industry and patient associations started to develop, as well as collaborations between funding agencies. IRDiRC members include funding agencies, industry and patient associations, spread across 22 countries and one regional unit in five continents, creating a favourable eco-system to foster international collaborations.

Another point of impact is the establishment of standard policies and guidelines aiming at accelerating research on rare diseases, and at reinforcing international research cooperation and good practices, especially in the field of clinical and biological databases, through support of the elaboration of common standard operating procedures, of a harmonised ethical approach and of unified rules to access patient data and samples. Areas where such policies and guidelines were and wil continue to be necessary include genotypic and phenotypic data, animal and cellular models, and data and samples collection. In addition, the sharing of research projects, and clinical trial information will foster research and international collaborations. This compilation provides an overview of rare diseases research worldwide, and formed the basis for a gap analysis, uncovering gaps and opportunities for future research.

The project contributed towards the IRDiRC goals 2017-2027: All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature, and all currently undiagnosed individuals will enter a globally coordinated diagnostic and research pipeline; 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options; and methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients. Reaching these goals would be strongly beneficial to rare disease patients who often struggle for several years to obtain a diagnostic for a disease that, for most of the time, does not have an available treatment.

The progress on the previous goals has shown that the international rare diseases research community is eager to share knowledge and experience, and work collaboratively across borders in order to bring diagnoses and therapies to patients. The IRDiRC goals 2017-2027 can only be achieved with fundamental changes to the way science is conducted, shared, and applied to the care of rare disease patients. IRDiRC members have committed to catalyse such changes and we hope that others will share and help with this commitment to action. It is time to build new bridges and raise the bar for rare diseases research worldwide.

List of Websites:
twitter: @irdirc