Edition of 24 July 2022

The IRDiRC has published its State of Play report of global rare disease initiatives covering the years from 2019 to 2021. The aim of this report is to inform stakeholders of the newest developments in the in the field of rare diseases research in order to support decisions of policy makers, research funders as well as patient advocacy groups. It is based on a systematic survey of published articles, in scientific journals and press releases.

 The first chapter of the report focuses on worldwide rare diseases research initiatives which cover the following five IRDiRC core themes: Shortening the diagnostic journey; Developing new therapies; Fostering clinical research; Stimulating multi-stakeholder engagement; Access to care and impact assessment methodologies.The articles provided in OrphaNews served as a basis for this chapter.

Several initiatives are mentioned in the report under the first theme, including the 1+ Million Genomes’ Initiative created by the European Commission in 2019 which aims to have at least 1 million sequenced genomes accessible in the EU by 2022. The launch of the French RaDiCo initiative, designed to collect extensive phenotype data in the field of rare diseases to enhance clinical and epidemiological research is also mentioned as an initiative intended to shorten the diagnostic odyssey for patients. The report notably highlights the launch of Screen4care, an EU private-public research initiative which aims to shorten the time for diagnosis access through genetic newborn screening and machine learning. Several policy developments in the field of rare diseases are also covered, such as the adoption of a rare disease policy framework in Western Australia in 2020 known as the Undiagnosed Diseases Program and the adoption of a National Policy for Rare Diseases in 2021 in India.  

In the areas of drug development and clinical research, several European legislation incentives are mentioned, including the EMA’s orphan incentives and the Repurposing of Authorised Medicines. The Australian government’s investment in clinical research on rare diseases and rare cancers in 2019 is also highlighted in the report. Multistakeholder engagement in 2019-2021 is illustrated by the launch of EJP-RD in 2019, the Rare as One project in the US, the National Strategic Plan on Rare Diseases in Australia, TEHDaS in Europe, and the Rare 2030 Recommendations, among others. Several national initiatives for access to care for rare disease patients are also highlighted in the report, such as Australia’s Life Saving Drugs Program, the New National Center for Rare Disease in Qatar, as well as the New Rare Disease Fund in Singapore. At the global level, the New Political Declaration on Universal Health Coverage (UHC) is mentioned as well as the WHO Collaborative Global Network for Rare Diseases.

The second chapter provides a landscape of the global rare diseases research trends during the past ten years. In this chapter, Orphanet was used as a database to provide the relevant information including through its database of curated research projects and clinical trials. This part of the report includes an analysis of research projects during the past ten years, including in terms of disease coverage, as well as an analysis of clinical trials. The report reveals an existing gap in rare disease research as there are only 19% of non-neoplastic rare diseases for which clinical trials are conducted, and 37% for which there is some research.