The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET

Abstract

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

“…Cooperation and transfer of knowledge among ERNs have proven to be a very efficient strategy to address RDs in Europe. The added value of ERNs to society is particularly high due to the rarity of these conditions, which implies both a limited number of patients and a scarcity of expertise within a single jurisdiction [ 2 , 18 , 20 , 21 ]. ERNs thus unite the most crucial RD healthcare providers in the EU and play an important role in RD policymaking both at the EU and national levels.…”

ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products

“…For instance, a study from Israel showed that more than 40% of people hospitalised with breakthrough infections after vaccination were immunocompromised (10) The SLR on the specific clinical questions was performed by the four research fellows (GAR, SB, CC, PT) under the supervision of the methodologist (RT). The literature search was conducted using PubMed and Embase database, searching for relevant papers through October 2022; papers were selected, critically appraised and summarised according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (14). To better contextualise the available data according to the different phases of the pandemic, an arbitrary temporal classification of the analysed studies was defined (Table I).…”

State of the art and future directions in assessing the quality of life in rare and complex connective tissue and musculoskeletal diseases

“…With heterogeneous symptoms, these diseases may affect various organs of the body and, at the latest stage, come to multiple organ systems impairment. rCTDs include diseases such as Systemic Lupus Erythematosus (SLE), Systemic Sclerosis (SSc), Mixed Connective Tissue Diseases (MCTD), Inflammatory Idiopathic Myopathies (IIM), Undifferentiated Connective Tissue Diseases (UCTD), Antiphospholipid Syndrome (APS), IgG4, Sjögren's Syndrome (SS), Ehlers Danlos (EDS), and Relapsing Polychondritis (RP) (1). The accurate incidence and prevalence of each disease (2) are still undetermined; however, most rCTDs affect no more than 1 person per 2,000 (3), on average (meeting criteria defined by the European Union Regulation on Orphan Medicinal Products 1999), with few exceptions.…”