Table 1

EUCERD recommendations for rare disease (RD) registries

Recommendation by EUCERDEMBARC policy to address EUCERD recommendations
1)RD patient registries and data collections need to be internationally interoperable as much as possible and the procedures to collect and exchange data need to be harmonised and consistent, to allow pooling of data when it is necessary to reach sufficient statistically significant numbers for clinical research and public health purposes.EMBARC developed a case report form and registry software through an exhaustive consultation process with European stakeholders and aligning the fields where possible with colleagues in the USA bronchiectasis and NTM registry ( [25].EMBARC has provided the registry software for free to researchers throughout Europe as well as well as the Australian, Indian and other non-EU bronchiectasis initiatives. By ensuring that all international bronchiectasis initiatives use the same case report form and core dataset, interoperability is ensured for future research and data exchange. Certain funders are now adopting a policy of only supporting registries that use the EMBARC platform.
2)All sources of data should be considered as sources of information for RD registries and data collections, to speed up the acquisition of knowledge and the development of clinical research.
 2.1)As with all registries, registries for RDs should establish clear purposes and objectives of the data collection: the type of data collection should be suited to the need and the data captured should be appropriate to the proposed use of the data.EMBARC collects data directly from clinicians caring for patients with bronchiectasis. Data points have been determined by careful review by multiple stakeholders with a clear research and publication strategy determining the choice of variables.
 2.2)RD centres of expertise, where they exist, should contribute to a registry.All centres of expertise in Europe for bronchiectasis were contacted and invited to participate in the registry. In countries without recognised expert centres, FIRS and ERS national delegates were used to identify expert or interested centres for participation.
 2.3)Electronic health records from any sector of healthcare delivery are a valuable source for core data collection. Automatic data acquisition from these sources should be envisaged to ease the data collection process.Electronic health record linkage is possible only in a minority of European countries but EMBARC obtains consent for linkage to electronic medical records where this is available.
 2.4)Collection of data on RDs should be delineated in the national RD plan/strategy.This is outside the scope of EMBARC responsibilities.
 2.5)A system to allow the collection of data directly reported by patients should be included along with systems for data reported by clinicians.This was not part of the original EMBARC project but a platform for direct data entry by patients is being developed for launch in 2018.
3)Collected data should be utilised for public health and research purposes.
 3.1)RD data collected should be used to support policy development at local, regional, national and international level.EMBARC registry data are collected for public health and research purposes. EMBARC data are made freely available for use in supporting policy development at local, regional national and international levels, an example of which is contributing to recommendations in the 2017 ERS bronchiectasis guidelines. In addition, EMBARC data have been used for submission to regulatory authorities in respect of off-label drug use.
 3.2)RD data collected should, where possible, facilitate clinical and epidemiological research and the monitoring of care provision and therapeutic interventions, including off-label use of approved drugs and existing medications.
 3.3)RD data collected should, where possible, be used to provide information for multicentre and multinational clinical trial feasibility studies.EMBARC registry data have been used to conduct feasibility studies for >10 multicentre and multinational clinical trials including academic and commercial studies.
 3.4)Pooling of data across data collections and other resources, including internationally, should be encouraged to reach a critical mass for data analysis. According to the governance/oversight criteria, data should be made accessible to groups with legitimate questions such as researchers and policy/decision makers.EMBARC has a clearly defined, open and accessible data sharing policy. This is discussed in greater detail at Publications are strongly encouraged and are supported by a scientific committee.
 3.5)Access and sharing of data should be defined to control how data is shared and published in the public domain.
4)Patient registries and data collections should adhere to good practice guidelines in the field. Specific to the current and future specificities of RD registries.
 4.1)Involvement of stakeholders such as patients, policymakers, researchers and clinicians (and industry, where appropriate) in the design, analysis and governance of registries is important to address the complexity and scarcity of knowledge on RDs.The EMBARC registry is run on a day-to-day basis by a coordinating centre consisting of the chief investigator and registry coordinator. The governance includes an executive group and a steering committee for the registry, which includes all relevant stakeholders across Europe. The governance also includes a PAG supported by the European Lung Foundation. Although the governance of the EMBARC registry does not include industry, EMBARC regularly consults with industry to ensure that the EMBARC project meets the needs of industry.
 4.2)Representatives of all stakeholders should be invited to provide best possible expert support through an advisory board or committee to ensure appropriate information flow and knowledge exchange into and from the registry, and they should define a sustainability and exit strategy for the registry. Where appropriate, representatives from industry should also provide input.
 4.3)This multi-stakeholder model for registry governance should apply not only at a national level but also at the European level and/or pan-European Platform repository of RD registries.EMBARC governance is pan-European.
 4.4)The process for consenting patients for participation in a RD registry should take into account the wider European and international context to ensure that patients are well informed of this dimension and the consent process is in line with the legal requirements at European and International level.Consent to the EMBARC registry across Europe uses standardised consent and information forms which make clear the European and international nature of the study. All documents are compliant with European law.
 4.5)Patients already in a RD registry may be required to go through an additional consenting step to ensure compatibility with such systems.Not applicable in EMBARC.
 4.6)RD registries should have a system to provide regular feedback to registered patients and their clinical teams, recognising their specific role in the success of registries in this field.Regular feedback to clinical teams is provided through monthly newsletters. Feedback to patients is achieved through a website and through regular updates to the PAG via the European Lung Foundation.
5)Existing and future patient registries and data collections should be adaptable to serve regulatory purposes, where required.EMBARC works with regulators and industry to ensure that the registry is suitable for future pharmacovigilance and other regulatory purposes.
6)Patient registries and data collections should be sustainable for the foreseeable timespan of the registries’ utility.EMBARC is supported by the ERS, charities, industry and by a public–private partnership (the EU Innovative Medicines Initiative). EMBARC provides funding to centres participating in the registry to promote high quality and sustainable data collection.

Note that recommendations 1, 5 and 6 have been abbreviated for readability purposes. NTM: nontuberculous mycobacterium; PAG: patient advisory group.