Rare Disease Registry Data Warehouse

Patient registries and databases are key instruments to support clinical research in the field of rare diseases, to improve patient care and aide healthcare planning. The effort needed to gather registry data is enormous and yet worthwhile since they are the basis for the observation of the natural course of a disease, for planning and for doing feasibility checks of clinical trials. A widely unknown number of RD registries existed, still exist or are in the process of being set up. So far, data exchange is a problem, not foreseen in most registries and cross-border interoperability is not provided. The small number of patients affected by rare diseases make registries even more important than in the normal population or in common diseases as they enable cross-border gathering of data to achieve sufficient sample size for any purpose in clinical research and or public health issues.

Patient and care team members of ERN-LUNG have deducted that the excellent pre-existing registries within ERN-LUNG could give a strong basis for a NEW Registry Warehouse enabling full data exchange and cross-border interoperability. This Rare Disease (RD) REGISTRY DATA WAREHOUSE will be a combination of existing registries, new registries or new registry elements that are brought together with full interoperability. To develop this RD REGISTRY DATA WAREHOUSE, we build upon our experience with registries established and coordinated by the applicants, starting with three disease groups:

Cystic Fibrosis (ECFS Patient Registry)

Primary Ciliary Dyskinesia (International PCD Registry), ClinicalTrials.gov Identifier: NCT02419365)

Non-CF Bronchiectasis (EMBARC Registry)

In addition, we use existing software solutions (Open Source registry framework OSSE) developed and/or used for RD registries by the applicants and leadership in defining minimum data sets and compliance to data quality standards such as EUCERD Recommendations on RD registries, a project led by the coordinator. The whole system of the RD REGISTRY DATA WAREHOUSE will be fully compliant with the new European data protection regulation, and ensures the data will be findable (F), accessible (A), Interoperable (I), and re-usable, i.e. F.A.I.R.

This RD REGISTRY DATA WAREHOUSE will not only improve data management and research in rare lung diseases, but will serve as a blueprint to connect patient registries and databases linked to other rare diseases.

The project is co-funded by the Health Programme of the European Union. This webpage is part of the project / joint action ‘777295 / REGISTRY WAREHOUSE’ which has received funding from the European Unions Health Programme (2014-2020).

MAIN COMPONENTS OF THE PROJECT

The RD REGISTRY DATA WAREHOUSE is a virtual combination of different use cases making the best possible use of data in different settings.

The WAREHOUSE is the data manager in charge of knowing where data are stored and how they could be used. They will only be made available for specific uses if the patient has given his or her consent to that use. It will be of no importance which port of entry the data takes as long as the patient has consented to making the data available for different registry purposes.

The general objective of the project is to establish a comprehensive RD REGISTRY DATA WAREHOUSE for all respiratory disorders and all possible use cases, which also can be used as a model for other rare diseases to support care and research for the benefit of patients.

THE RD REGISTRY DATA WAREHOUSE has three major elements:

1. ERN-LUNG REGISTRY

This is a new registry which uses the basic data set plus health care and economic data, plus (inside and outside the ERN) respiratory disease-specific registry data (cystic fibrosis; CF, non-cystic fibrosis bronchiectasis; nCF-BE, primary ciliary dyskinesia; PCD, pulmonary arterial hypertension; PAH, and all other rare lung diseases).

2. ERN-LUNG POPULATION REGISTRY

This is also a new registry making use of the basic data set. It is patient driven and provides the possibility to add patient recorded data. The new population registry collects data from patients directly, irrespective of whether they are seen either in the ERN-LUNG member HCPs or in any other highly specialized institution. This offers access to patients otherwise not reached, especially since patient self-recording of the data will be encouraged. The Population Registry can be accessed here and is available in both English and German.

3. DISEASE SPECIFIC REGISTRIES

This group of registries will encompass new and pre-existing and/or amended and/or bridgehead-connected existing registries for CF, PCD, nCF-BE and PAH). Registries of CF, nCF-BE and PCD will be horizontally linked with each other for benchmarking purposes etc. These registries have been in existence and will remain outside the ERN but will be connected (will share data) with the Population Registry and the ERN-LUNG registry by a search broker to avoid duplication of data and efforts. 

Target Groups

The main target group is all patients affected by rare respiratory diseases. The more we know about these patients and their disease the better we will be able to help them. The project will not only give detailed information on patients already known but will attract new patients to self-register in the ERN-LUNG Population Registry, and will help closing the gap of knowledge concerning the number of patients affected. The scope of the project is such that we expect to cover all patients in the entire field of respiratory disorders (same coverage as ERN-LUNG) in all Member states. All members of the care teams involved are considered a secondary target group since they are the connectors between the registries and the use cases and are important motivators and multipliers for data acquisition and maintenance.