Research Collaboration in Rare Diseases Is Key to Improving Lives of Patients, Analysis Finds

International collaboration on research into rare diseases like antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is fundamental to improving the health and lives of patients, a new study suggests.

The review, titled “The importance of international collaboration for rare diseases research: a European perspective,” was published in the journal Gene Therapy.

The European Union defines a rare disease as a life-threatening or chronically debilitating disease with an incidence of less than 1 in 2,000 people. Rare diseases are very challenging to research by any single country as the prevalence of these diseases is very low.

Therefore, in 2008, the EU adopted a communication strategy to help EU member countries in diagnosing, treating, and caring for patients with rare diseases. Three areas of improvement were identified, including improving the recognition and visibility of patients with rare diseases, supporting national plans for rare diseases in EU member countries, and increasing the cooperation and coordination in EU countries.

The review was written to analyze the efforts put into the field in Europe and to provide insight into the International Rare Diseases Research Consortium (IRDiRC).

Funding has been a critical part of the EU’s effort at improving pre-clinical and clinical research in rare diseases. The EU has funded international research on this field for a long time: more than 1 billion euros in over 270 projects since 1998. The main reason for this expanded funding effort is to support the development of new therapies and the ability to correctly diagnose rare diseases. A statistical analysis has shown that many benefits have come from the funding, including more spin-off companies, more new patent applications, and an increased number of publications.

Another program that the EU set up for cross-border research is the European Reference Networks (ERNs). Implemented in 2011, the program used an IT platform across Europe to bring together medical specialist with expertise in tackling specific uncommon diseases. The presence of ERNs has led to a larger pool of patient cases available for analysis, which could contribute to better observational studies and clinical trials.

The EU has encouraged national funding organizations to join the E-Rare program, which was implemented in 2006 as a way to foster collaborative funding of small and focused research groups through joint translational calls (JTCs) for research.

The E-Rare program has gone through multiple phases. As it stands now, the program is composed of 18 countries and is part of the IRDiRC. Since 2006, this program has launched eight JTCs and invested 92 million euros in rare diseases. An analysis has shown that in the past 10 years, 37 projects have been funded by this program, including the training of 83 master’s degree students and 108 PhD students in the field of rare diseases.

The program has also led to an extensive exchange of samples, a creation of databases, biobanks, and registries.

Next, the IRDiRC was developed in 2011 to prompt global cooperation and collaboration between researchers around the world. The main goals of the IRDiRC are to develop 200 novel therapies and to develop new diagnostic tool for most rare diseases by 2020. Currently, the IRDiRC is in its sixth year and many of these goals have been achieved.

“Collaboration is an integral part of research, especially in [rare diseases] where the expertise and patients are scattered. For almost two decades specific efforts have been made at national, European and international levels to strengthen cooperation not only in research, but also at regulatory, funding, and healthcare levels,” according to the authors. However, “more efforts focused on shortening the translational pipeline and closing the gap between research and care are needed,” they added.