As awareness of rare diseases has grown, significant investment has been made to improve the processes and systems to support correct diagnosis and patient care. However, many of these initiatives are focused on a national level, which can create unintentional barriers for clinical research. Rare disease studies require a patient-centric approach and are often designed around the needs (and locations) of patients living with the disease. This Rare Disease Day, we take a brief look at what recent developments have been made into rare disease clinical research, and what we may be able to learn from them.
Whilst a disease may be ‘rare’ the impact of rare diseases as a collective group is significant. Any disease classified as impacting around 1 in 2,000 people is considered rare, but with up to 8,000 rare diseases, this amounts to around 400 million people living with a rare disease today[1].
In the EU, up to 36 million people are living with a rare disease[2]. The EU has invested more than €3.2 billion in research for rare diseases between 2007-2020 and has promoted a number of its key campaigns aimed at improving health equity, access to information and data transparency for researchers. The European Platform on Rare Disease Registration for example, provides a unified access point to rare disease registries and all types of data sources in Europe, and includes a pseudonymised search broker which allows creation of patients’ cohorts for studies and research without exposing patients’ data.[3] However, whilst these policies seek to improve communication and knowledge sharing within the EU, there are still challenges when considering a global approach to improving outcomes for patients with rare disease and their families.
Whilst there is a degree of uncertainty around the impact the recent change in administration will have on the clinical research landscape in the US, the Rare Diseases Clinical Research Network (RDCRN), has been a consistent driver of research and development since its establishment in 2003.[4] Boston Children’s Hospital, one of the consortia of medical research centres supported by the RDCRN, recently shared the impact its genomic sequencing and analysis research initiative, which has gathered data from 13,800+ patients and their families since its inception in 2018. This data has “fostered new research projects and collaborations, increased genetic diagnoses and accelerated innovative research via integration of genomics research with clinical care”[5].
The UK recently established The Rare Disease Research Platform in 2023, consisting of eleven research ‘nodes’ within UK universities, aiming “to significantly impact the Rare Disease research landscape and improve the lives of those directly or indirectly affected by Rare Diseases”.[6]
Whilst considerable investment has been made to improve outcomes for patients living within these geographies, challenges still remain for rare disease clinical research, which often requires multi-country, multi-site strategies and collaboration across different regulatory agencies and systems. This is a challenge which The International Rare Diseases Research Consortium (IRDiRC) recognised as a potential barrier to accelerating rare disease clinical research, citing issues with “funding limitation; lack of harmonization in regulatory and contracting process; need for common tools and data standards; need for a governance framework and coordination structure; and lack of awareness and robust interactions between networks” as key issues impacting international collaboration on rare disease clinical research. Additionally, the research cited that biopharmaceutical companies were poorly integrated into the Clinical Research Networks, and that driving integration could offer the opportunity to improve the drug development process by supporting patient-centric study design, leading patient registries and natural history studies, and facilitating patient recruitment into clinical trials[7]. These findings, published in November 2024, indicates the importance of cross-country collaboration and communication, to ensure advances in research are not delayed by inefficiencies created by multiple systems and stakeholders.
Read the full report here: Frontiers | Fostering the international interoperability of clinical research networks to tackle undiagnosed and under-researched rare diseases
[1] Rare diseases – European Commission
[2] HEALTH AND FOOD SAFETY – Rare Disease Day: how the EU is helping rare disease patients
[3] Rare diseases – European Commission
[4] Rare Diseases Clinical Research Network – October 2019
[5] French, C.E., Andrews, N.C., Beggs, A.H. et al. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. npj Genom. Med. 9, 60 (2024). https://doi.org/10.1038/s41525-024-00441-9
[6] Homepage – Rare Disease Research UK
[7] Zanello et al., Fostering the international interoperability of clinical research networks to tackle undiagnosed and under-researched rare diseases Front. Med. , 13 November 2024, Sec. Translational Medicine, Volume 11 – 2024 | https://doi.org/10.3389/fmed.2024.1415963