TogethERN ReCONNET, the European Registry Infrastructure for data harmonization in rare and complex connective tissue and musculoskeletal diseases (rCTDs), aims at integrating all existing and newly developed registries on rCTDs across Europe and providing a sufficient number of cases that will help in better understanding the natural course of the diseases, characterizing diseases in the early phases, mapping disease history, identifying different disease phenotypes and distinguishing predictive variables for disease outcomes. Information gathered through the long-term follow-up of a large number of patients will facilitate a better assessment of the clinical problems of patients with rCTDs and may help in determining an improved management of these patients and healthcare planning in general.
The creation of a European Registry Infrastructure on rCTDs is crucial to improve clinical practice and disease understanding in the field of rCTDs and the ERN ReCONNET offers the natural framework for the development of this project, providing an established Network of rCTDs experts, patients and patients representatives, health economists, policy maker and quality assessors.
TogethERN ReCONNET will represent a European Registry Infrastructure integrating both existing and novel registries within the project timeframe. In detail, TogethERN ReCONNET aims at:
• Promoting a harmonised data collection approach on rCTDs in Europe;
• Integrating and implementing existing rCTDs data;
• Improving disease knowledge, clinical management and care provided to rCTDs patients;
• Facilitating rCTDs research, post-authorisation studies and cost-effective healthcare planning.
TogethERN ReCONNET integrates and improves the existing knowledge in the field of rCTDs, addressing the needs of different stakeholders, supporting the improvement of the disease knowledge and management, current and future policies on the treatment and management of rare diseases.
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The main objective of this application is to develop a comprehensive approach for rare disease registration in ERN GUARD-Heart by establishing the first overarching registry of ERN GUARD-Heart (the Heart-Core Registry) using standards and tools provided by the European Platform on Rare Disease Registration (EU RD Platform). To harmonize data and facilitate semantic interoperability, in the Heart-Core Registry a minimal dataset (including the Set of Common Data Elements for Rare Diseases Registration provided by the European Commission’s Joint Research Centre) will be prospectively collected for new patients in the ongoing ERN GUARD-Heart registries and in the future ERN GUARD-Heart registries. In addition, the Heart-Core Registry will signpost users to the detailed disease- or gene-specific ERN GUARD-Heart registries. To render its data more searchable and findable, the Heart-Core Registry will be registered on the European Rare Disease Registry Infrastructure (ERDRI). It is expected that the activities proposed in this application will facilitate ERN GUARD-Heart to reach its goals and specific objectives, create a cost-effective and comprehensive approach of rare disease registration in the ERN GUARD-Heart, lead to increased awareness of ERN GUARD-Heart patient registries and improved reusability of data in these registries among various stakeholders, and enable better interaction among rare disease registries in Europe.
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A difficulty in treating rare and/or complex craniofacial anomalies and ENT disorders is that there is limited information to substantiate the treatments, doctors, patients and policy makers use and advocate. Current clinical practice varies tremendously within and between European countries, particularly in regards to the timing of treatment and the surgical technique used. This makes cross-country comparisons difficult and because of this, optimal clinical care is difficult to identify.
To overcome this, consensus on a baseline criteria must be established across various member states, and recorded in a common ‘data dictionary’. Next, relevant outcome data must be defined, including their timings and method of recording. Finally, the ERN CRANIO registry will collect standardized outcome data using PROMs and QoL instruments. The outcome data will initially be collected for the two largest diagnostic groups within ERN CRANIO, craniosynostosis and cleft lip/palate.
This project seeks to standardise the collection of patient data across Europe, for the ultimate benefit of patient care. This will help clinicans to identify and provide optimal care which will help to reduce health equalities for patients across Europe.


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