ERN-RND Registry

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BACKGROUND

Establishment and operation of an ERN based patient registry are core activities of all ERNs and lie within the healthcare scope of the ERNs. As such ERN registries have two complementing functions. They are an important component of a digitalised European healthcare and they are drivers of the associated transformation of healthcare.

The ERN-RND registry has been established at University Hospital Tübingen and is being implemented as a REDCap database and meets European requirements and standards including GDPR.

Based on an ERN-RND Data Sharing Agreement, annual datasets of each ERN-RND HCP are being collected. The collected data per patient corresponds to the “Set of common data elements for Rare Diseases Registrationˮ and encompasses a minimal set of data that is pertinent to healthcare.

A Data Access Committee mandated by the ERN-RND Board controls the use of data following an agreed Data Access Policy.

REGISTRY OBJECTIVES

• To collect data on patients seen per Disease Group in ERN-RND
• To improve the medical care of patients in particular with regard to diagnosis and standards of care
• To harmonise data on RND patients across the EU to enable addressing key epidemiological, cohort composition, care quality and care resource questions
• Make data collected in the ERN-RND registry available to researchers, public authorities, industry and other stakeholders
• To establish RND registries ecosystem based on interoperability and FAIR principles that is facilitated by the European Rare Diseases Registry infrastructure, tools and services

DISEASE GROUPS COVERED

• Cerebellar Ataxia & Hereditary Spastic Paraplegias (HSPs)
• Chorea & Huntington’s disease
• Dystonia, Neurodegeneration with Brain Iron Accumulation (NBIA) & Paroxysmal Disorders
• Frontotemporal Dementia
• Leukoencephalopathies
• Atypical Parkinsonism: Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) & Genetic Parkinson’s Disease

DATA SUBMISSION

Every ERN-RND HCP has to submit data of all patients that were seen in one full calendar year in the scope of ERN-RND. This includes patients without a genetically confirmed diagnose.

Deadline for submission is 1 April for the patient seen in the previous year.

Current Template and Manual for data submission 2024 (data of 2023).

DATA ACCESS

The data in the ERN-RND registry will be monitored at regular intervals for detailed data consistency evaluations.

After finalisation of the annual data submission phase, aggregated data will be made available. Aggregated data will include

• total number of patients
• patients per country
• patients per disease group in total and per country
• patients for which biosamples are available
• number of genes for which patient data is available
• the number of patients without OMIM code (without molecularly confirmed diagnosis)
• age range and sex distribution of patients per disease group.

The aggregated data will be presented to all HCPs and will be published on this website.

Furthermore, access to patient level data can be applied for to the Data Access Committee.

The following stakeholders are in principle eligible to apply for access to data from ERN-RND registry:

• Clinicians and researchers contributing to the ERN-RND registry
• External researchers from EU countries
• Researchers from non-EU countries
• Researchers from for-profit companies
• Regional, national and EU health authorities
• Regional, national and EU policy, supervision or regulatory agencies
• Patient organizations
• Non-governmental organizations

 To apply for access to ERN-RND registry data you have to complete the Data Request Form and return it to the ERN-RND registry project coordinator. The Data Access Committee will review the application and decide on whether to accept it or not.

If the application is accepted:

• For aggregated data: the ERN-RND registry project coordinator will provide the respective data
• For patient level data: all involved HCPs are informed by the ERN-RND registry project coordinator that an applicant has requested access to data the respective HCP has submitted. If the HCPs approves the access, pseudonymised data will be made available. If requested by the applicant, the ERN-RND registry project coordinator will provide applicant’s contact information to the respectively involved HCPs.

Data Access Committee (DAC)

A Data Access Committee mandated by the ERN-RND Board controls the access to data following an adopted Data Access Policy.

The DAC has the task to promote the research use of the data that are being collected in the ERN-RND registry through a transparent and simple approach ensuring the long-term sustainability of the project. The DAC has to

• Check that the proposed work complies with the terms and conditions of the ethics approval provided to the ERN-RND registry.
• Look for evidence that the third-party requesting access to data is appropriately qualified for use of the data.
• Advise on improving the projects and any overlaps with ongoing projects.
• Ensure that the effort of all those involved is appropriately acknowledged.

Composition of the Data Access Committee

The Data Access Committee comprises the following members:

• The Clinical Coordinator
• One member from each disease group of the ERN. The members should represent ERN member centres that actively contribute to the registry.
• A patient representative

Members of the Data Access Committee

In addition to the standing DAC members, an expert in ethico-legal issues will be invited if necessary. Furthermore, PIs of disease-specific sub-registries will be invited to join the DAC on an ad hoc basis whenever data access applications are in relation to their registries.

The term of the DAC members is until the end of the current ERN-RND work program, that is by 31 August 2027.

CONTACT

In case of questions, please contact Christina Vossler-Wolf, the ERN-RND Registry Project Coordinator.