Latest projects

3rd Health Programme (2014-2020)
ERN CRANIO registry [ERN CRANIO registry]
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 a...
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.


Start date: 01/04/2020 - End date: 31/03/2023
Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
ERNICA-registry for improving care [ERNICA registry]
There is currently no European registry available to capture core outcome data from patients with the rare and/or complex diseases covered by ERNICA. To improve care across Europe and reduce health in...
There is currently no European registry available to capture core outcome data from patients with the rare and/or complex diseases covered by ERNICA. To improve care across Europe and reduce health inequalities, this is key. Whilst local and national registries exist for some of these rare diseases, there is no standardised approach across Europe. This results in multiple, smaller-scale data sets that are fragmented and not comparable, making it difficult to monitor patient trajectories on a European level, benchmark optimal care and carry out meaningful clinical research.

This project will build upon the existing registry infrastructure in the Netherlands, hosted by the Dutch Institute of Clinical Auditing (DICA). This registry covers six ERNICA-covered anomalies. The objectives of this proposal are to revise the existing registry, implement the JRC Set of common data elements for rare disease registration, expand the registry’s use to other non-Dutch ERNICA healthcare providers (HCPs), achieve inter-operability with other existing registries in Europe, develop a dashboard for data collection and analysis and eventually, make the registry available to non-ERNICA centres.

The registry will involve the prospective collection of a pre-natal, post-natal and longer-term data set (common and disease-specific). ERNICA HCPs will input grouped and un-identifiable data locally. Every 6 months, HCP’s results will be made available to them, alongside group averages. Annually, results will be presented at a board meeting. Benchmarking outcomes will help ERNICA clinicians to identify best practice and improve patient care. A strategy is in place to ensure these learning points are appropriately disseminated.
This project will standardise and pool together relevant and meaningful patient data across Europe, helping to identify optimal, cost-effective care for the benefit of HCPs and ultimately, their patients.
Start date: 01/04/2020 - End date: 31/03/2023
Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
ILIAD Rare Diseases patient registry: an International Library of Intellectual disability and Anomalies of Development [ILIAD]
Under ERN-ITHACA’s umbrella, we plan to develop a single “meta-registry” (ILIAD) of patients with developmental anomalies (dysmorphic/multiple malformations syndromes and/or intellectual disabil...
Under ERN-ITHACA’s umbrella, we plan to develop a single “meta-registry” (ILIAD) of patients with developmental anomalies (dysmorphic/multiple malformations syndromes and/or intellectual disability) recruited in ERN ITHACA, ,patients with several developmental disorders affecting the head recruited by ERN-CRANIO and connective tissue disorders recruited by ERN SKIN. ILIAD will register 3 types of patients: genetically-defined patients (patients must have a genetic/genomic diagnosis to be recorded), clinically defined patients (patients must have a precise clinical diagnosis with a disease-level ORPHA code), and undiagnosed patients. ILIAD will rely on the JRC common data element, enriched by ITHACA specific elements. Effort will also be done to connect ILIAD with external European registries, both professional-driven and patients-driven, and with biobanks.
ILIAD registry relies on 2 components: a central,web-based registry and a network of satellite/client registries linked to the central registry to form the ITHACA registry federation. ILIAD will be build with the existing software solutions from MOLGENIS open source project.. To support findability and interoperability of the ILIAD, the registry will be connected to the European Rare Disease Registry Infrastructure (ERDRI) provided by the JRC, by listing the ILIAD in the European Directory of Registries (ERDRI.dor), making the meta-data available in the Central Metadata Repository (ERDRI.mdr), and using the Pseudonymisation Tool (EUPID) to allow linking RD patients cohorts. In addition, all data will be modelled adhering to international interoperability standards and building on FAIR systems as developed in and coordinated by EJP-RD, Global Alliance for Genomics and Health and Solve-RD, and more generally, Biobanking and Biomolecular Resources Research Infrastructure - European Research Infrastructure Consortium and the European Life-sciences Infrastructure for biological Information.

Start date: 01/04/2020 - End date: 31/03/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
STarting an Adult Rare Tumor European Registry [STARTER]
This project aims to set-up a clinical registry for the European Reference Network (ERN) on Rare Adult Cancers (EURACAN) which is focusing on 10 out of the 12 families of rare cancers, each correspond...
This project aims to set-up a clinical registry for the European Reference Network (ERN) on Rare Adult Cancers (EURACAN) which is focusing on 10 out of the 12 families of rare cancers, each corresponding to a EURACAN “domain”.
This project will:
1. Develop the IT infrastructure of the Registry exploiting tools defined by the European Rare Disease Registry Infrastructure. The IT will be interoperable with other rare disease registries and compliant with the FAIR (findable, accessible, interoperable and reusable) principles.
2. Identify the core data set for each of the EURACAN domain. The core data set will include data on patient characteristics, exposure (disease, devices, procedures, treatments etc.) and outcomes. Standard terminology will be used to ensure the “semantic” interoperability.
3. Address ethical, legal and privacy issue to ensure the data collection establishing a legal structure to ensure legal agreements between all partners involved (related to use of data, IP, confidentiality, etc.).
4. Define the Registry governance to clarify the rules and procedures to access and manage the Registry.
5. Develop the sustainability strategy to secure future funding for data acquisition and management at the end of this project.
Different stakeholders including EURACAN members; rare cancer patients; researchers (including all disease-based collaborative groups for clinical and translational research on rare adult solid cancers); scientific societies will be informed and engaged in setting up and, more important, fully use the Registry also after the end of this project.
At the end of the project an infrastructure for the data collection will be available together with rules for transfer, accessing and use the data collected.
Within this project, the EURACAN Registry will start to prospectively collect clinical information on the entire patient journey, in order to increase knowledge on rare adult cancers and to support clinical research.

Start date: 01/04/2020 - End date: 31/03/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
3rd Health Programme (2014-2020)
The ERN-RND Rare Neurological Disease Registry [ERN-RND Registry]
The ERN-RND Registry project aims to establish a demographic platform for collection of relevant core patient information. This will be accomplished by the construction and implementation of a single ...
The ERN-RND Registry project aims to establish a demographic platform for collection of relevant core patient information. This will be accomplished by the construction and implementation of a single data base encompassing all rare neurological diseases in pediatric and adult patients (the ERN-RND Registry), which will collect information according to the "Set of common data elements for Rare Diseases Registration". The members of ERN-RND provide healthcare to more than 35,000 patients with rare neurological diseases. The proposed ERN-RND Registry will target patients, who suffer from the following rare neurological diseases and conditions: Ataxia and HSP, Leukodystrophies, Frontotemporal Dementia, Dystonia, Paroxysmal Disorders & NBIA, Atypical Parkinsonism and Huntington’s Disease & Choreas. The ERN-RND registry project will pursue three main objectives: 1. The ERN-RND core Registry will be developed using the RedCap database platform that is being operated at University Hospital Tübingen, Hertie Institute for Clinical Brain Research. 2. The second main objective of the project will be to link the central ERN-RND registry with existing hospital databases and disease- or treatment-specific registries. 3. The third objective is the implementation of a continuous monitoring system to follow center performance in terms of care quality and patient outcomes.
Start date: 01/04/2020 - End date: 31/03/2023

Call: Call for Proposals for Projects 2019
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources o...
Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.