• e-REC (e-reporting of rare conditions): an electronic reporting tool that collects only the number of new cases seen at a centre per month. For the use of the healthcare professional only.
• Core Registry: a registry that collects a set of Common Data Elements for all the diagnoses we cover. Additionally, Patient-Reported outcome measures a condition-specific datasets are collected in this platform. The information collected by the Core Registry is what is expected to be collected during routine clinical care. Healthcare professionals and patients can access and use this platform.

No, the registries welcome countries from all over the world. Each centre should check the local regulations regarding participation in registries.

No, EuRREB welcome centres caring for the conditions covered by e-REC and the Core Registry platforms including those covered by Endo-ERN and ERN BOND.

e-REC: any new patient encountered during the reporting period with a diagnosis covered by this platform (see the e-REC conditions and diagnosis dictionary).

Core Registry: any new or known patient with a diagnosis covered by this platform can be entered (see the Core Registry conditions and diagnosis dictionary).

• Data on rare conditions is usually scarce. Patients and healthcare providers might benefit from data collection on the natural history of rare conditions.
• Anyone can apply for data, and the more data the better.
• Co-authorship and acknowledgement in publications for people contributing to the registries with data.

A Condition-Specific Module (CSM) is a dataset that includes variables that collect specific data on certain conditions. CSMs have been developed by Working Groups with a specific interest and expertise in a condition.

To obtain data from the Core Registry or e-REC, prospective investigators should have a look at the Data Access Policy, the Publication Plan and complete the Data Request Form and the Data Sharing Agreement. However, before completing these forms, please contact the Registries Team at registries@lumc.nl.

Since endocrine and bone conditions are seen by a wide range of specialties, healthcare professionals from different fields (Endocrinology, Rheumatology, Orthopaedic surgery, etc) and with different titles (physicians, researchers, data managers, nurses) can enter data.

e-REC Reporter: this role allows access to e-REC, can create/modify its own reporting setup, see the selected conditions by other reporters in the same centre, create and submit monthly returns and see and download the reports submitted by the centre.

Core Registry Clinical Contributor: access to the Core Registry platform, overview of the patients added by the centre, possibility to add patients including common data elements, condition-specific outcomes and patient-reported outcome measures (PROMs). Sending invitations to patients who would like access to the platform. Editing the data of own patients but also of patients added by other contributors from the same centre.

Core Registry Centre Lead:

Qualifications, responsibilities and role of a Centre Lead (CL):

• The CL must be a permanent member of the clinical staff
• The CL is responsible for local data governance and institutional ethics approvals
• The CL should oversee the reporting of cases in the registry by the local staff
• CL will approve new user requests from the centre
• Cases added by the centre can only be deleted by the CL (e.g. a duplicate record, the record of a patient who requests deletion of its data)
• The CL can edit outcomes created by other clinicians and their centre
• The CL and clinician responsible will be contacted when a study involving data added by the centre is planned
• The CL and clinician responsible will be contacted when a publication involving data added by the centre is planned

Responsible Clinician: the Responsible Clinician is the clinician who has the overall clinical responsibility for managing the day-to-day care of the case and who is usually responsible for initiating the recruitment process for that case. In addition to the Centre Lead, this Clinician will be contacted when a case under their care is identified at that centre for a study.

Yes, in both, e-REC and the Core Registry, more than one person per centre can enter data. Reporters from the same centre should arrange locally the reporting process.

Useful information about reporting on e-REC:

• To start using e-REC, the reporter must create a reporting setup.
• To avoid double reporting, only one reporter per centre may report on a specific condition for a specific age group. The e-REC platform provides information on the centre’s reporters including their contact details. This is particularly useful when the right to report on a specific condition/age group needs to be transferred between reporters in the same centre. If you face any trouble please contact us.
• When the status of a return is in progress, the reporting setup cannot be changed. The reporter has then 2 options: deleting the return in progress and changing the reporting setup or submitting the return in progress and then changing the reporting setup.
• Returns that have been submitted are final and cannot be changed.
• Reporters can bulk download their own returns or all the returns from the centre after selecting the period of interest.
• The monthly returns are open for a fixed period. The platform provides information on the closing dates and reporters receive reminders of relevant dates by email. Once a return is closed it cannot be reopened.
• If the return of the period you are looking to report is closed, you can report these numbers in the returns of the coming months.
• The status of cases reported as suspected can be changed to either confirmed or excluded at any time.

Adding the mandatory fields within the Common Data Elements takes not more then 5 minutes. Additionally, PROMs and condition-specific modules are available, and the time needed to complete these varies across questionnaires.

Bulk upload of Common Data Elements is possible and can be discussed with the EuRRECa/EuRR-Bone Registries Team, please contact us at: registries@lumc.nl.

A Condition-Specific Module (CSM) is a dataset that includes variables that collect specific data on certain conditions. CSMs have been developed by Working Groups with a specific interest and expertise in a condition.

A patient enrolled in the EuRREB registry has been transferred to your care. We invite you to continue their participation by setting up an account on the Core Registry platform, so you can enter data about this patient with support available from our team if needed. Please find a Patient Transfer Letter where you can select the specific condition for your patient.

e-REC: patient consent is not required, but participating centres are advised to check if they require local institutional approvals at their centre.

Core Registry: yes, the Centre Lead of the participating centre should make sure that all relevant approvals are in place; this registry also requires patient consent.

This is available at Ethics Approval but if you need anything else, please get in touch with us at registries@lumc.nl.

Can the EuRREB Team help with the paperwork?

Our team can provide you with several documents like the Core Registry and e-REC Approval, Core Registry and e-REC Protocol, Data Access Policy, Patient Information Folders with Informed Consent, Data Dictionary, Joint Data Registry Agreement and an invitation letter to the registry if needed. As legislation and regulations differ between countries and even within countries, your HCP is best placed explain the local requirements in your institution. If you have any questions regarding ethics, please feel free to contact us or attend our online drop-in sessions.

We can also put you in touch with others in your country who are already using the registries and already have ethics approval and/or signed our Joint Data Registry Agreement.

No identifiable or partially identifiable personal information is captured in e-REC and individual patient consent is not required.

Informed Consent from the patient is required before their data are entered in the Core Registry.

Doctors share their knowledge, data and resources in virtual networks . Patient registries can gather data in a secure place and a uniform manner, which makes it possible to compare the information. With the data in our patient registries we can do research and are able to improve the health care for our patients with:

• shorter diagnosis time;
• homogenous treatment for patients (or expert care accessible to) in all European countries;
• better treatments and development of new treatments;
• improve quality of life of people affected by rare endocrine and bone conditions.

To evaluate if a medical, surgical, or behavioural intervention is effective you have to perform research studies, so called clinical trials. Some endocrine and bone/mineral conditions are so rare that only a few patients in the world will have the right profile for a clinical trial. It is very important that patients suitable for that trial can be found and contacted quickly.

The best way of ensuring this can happen is to make sure that patients’ details are all collected together in a single database, or ‘registry’, that contains all the information that researchers will need, including each patient’s particular condition and other key information about their condition.

The registries are intended as a public service for the benefit of patients living with rare endocrine and rare bone/mineral conditions. You will be informed of any new information relating to your condition which might be of interest to you – for example if better ways of caring for patients with your condition have been identified.

Benefits for you as patient:

• shorter diagnosis time;
• homogenous treatment for patients (or expert care accessible to) in all European countries;
• better treatments and development of new treatments;
• improve quality of life of people affected by rare endocrine and bone conditions.

The data collected can also provide benefits to other patients with your condition, for example by revealing statistics on how many people across the world have the same condition, or providing information for researchers interested in the best standards of care for your condition. Overall improving quality of life for people affected by rare endocrine and bone conditions.

During the consent process for the Core Registry you will be asked whether you would like to acces the Core Registry platform. If you consent to participate you will receive an invitation to create an account. Upon access, you can view your data your healthcare provider has entered in the registry. Additionally, you can complete general questionnaires, for example about quality of life or pain or specific questionnaires about your condition.

If you want to share your data, but not actively enter data yourself in our database this is also an option. Only your doctor will then share the clinical data in our database.

Patients are also involved in the governance of the registries as part of the Steering Committee and Data Access Committee. They are also members of Study Groups.

All patients with a confirmed diagnosis (or pending diagnosis) of a rare endocrine or bone/mineral condition. It is possible to give your permission to your doctor to share your data in the database, without you actively participating in the database. If you would like to actively participate in the Core Registry, you can tell your doctor, who can invite you. Both patients and their caregivers or family members can participate in the registry to provide researchers with valuable data regarding a specific condition.

Your data will be stored securely and no unauthorized people will be able to gain access to any personal information about you. It is possible that your data will be used for research, but then your data will be as much anonymized as possible (e.g., your date of birth will be recoded in ‘child’ or ‘adult’).

When researchers would like to use data from the registries for research, they will have to put in an official request.

Your data will be kept for as long as the registry exists, and for 10 years after it ends. This is because there are few patients with your rare condition. You may always choose to stop data collection.

The data governance standards in the e-REC and the Core Registry comply with General Data Protection Regulation (GDPR). All information kept in our registries will be treated confidentially. If any research or other documents based on data from the registries is published, this research will never identify you by name.

Third parties wishing to have access to data (such as researchers or companies planning clinical trials or conducting research on new therapies) will only be given anonymous information. Before they are granted access to this anonymous information, they have to receive approval from our Data Access Committee. Your data will not be made available to employers, governmental organizations, insurance companies or educational institutions, nor to your spouse, other members of your family or your doctor.

The Leiden University Medical Center (LUMC) is the current owner of the e-REC and the Core Registry platforms. The Core Registry and e-REC have been approved in the Netherlands by Science Committee of Internal Medicine at the Leiden University Medical Center as ‘research databases’. For further information please visit our page on ethics.

Yes, we reuse your data to improve the health care for all patients with rare endocrine and bone conditions.

Your data is originally collected to diagnose or treat you. Using it again for a different purpose such as research, innovation, public health, policy-making, or personalised medicine, in European law this is referred to as ‘secondary’ use of data.

Such data is analysed to identify trends, develop new treatments and improve healthcare services. It can be used again by researchers, companies, public health organisations or healthcare providers following the European Health Data Space (EHDS) regulation under te protection of the European Commission. Please find more information on reuse of health data.

No, our registries will never pass on any personally identifiable data to anyone outside the registries. If a company asks to find patients who might be suitable for their trial, you will be sent a letter, giving you details about the trial and the name of the person to contact if you are interested (usually the doctor who is running the trial at the centre nearest you). But only when you have previously given us consent to contact you. That is the only legal way that patients can be recruited for trials, and we think it is also the best way, because you have time to consider whether it is something you are interested in without being put under any pressure.

We hope you will be interested in registering even if you don’t want to take part in a trial. Your information will still be useful to researchers who are trying to find out more about people living with your condition, and you will be provided with other information that might be relevant to your condition.

If there is a change in your contact information, you can edit your email address on the platform yourself and you are also able to change your consent. Data regarding your condition will be updated by your clinician.

Your participation in our registries is completely voluntary. Our national data protection laws grant you the right to access your own data and to rectify it or withdraw it completely at any time. Should you wish to withdraw your data from our registries you will be free to do so without having to provide any explanation. Per your request all your data can be removed from the registries and not used for future research, however, data that has already been shared with researchers is allowed to be used within their research.

If your previous doctor already entered your data into our Core Registry platform and you have been transferred to another doctor, please provide your new doctor with this Patient Transfer Letter and ask your new doctor to create an account in the Core Registry. Your new doctor needs to get in touch with us before we change your old hospitals’ name to the new hospital. Then, your new doctor can start entering your data into the registry.

If needed we can provide online support for your doctor to help set up an account and enter data.

This is available at Ethics Approval but if you need anything else, please get in touch with us at registries@lumc.nl.

Can the EuRREB Team help with the paperwork?

Our team can provide you with several documents like the Core Registry and e-REC Approval, Core Registry and e-REC Protocol, Data Access Policy, Patient Information Folders with Informed Consent, Data Dictionary, Joint Data Registry Agreement and an invitation letter to the registry if needed. As legislation and regulations differ between countries and even within countries, your HCP is best placed explain the local requirements in your institution. If you have any questions regarding ethics, please feel free to contact us or attend our online drop-in sessions.

We can also put you in touch with others in your country who are already using the registries and already have ethics approval and/or signed our Joint Data Registry Agreement.

We use a Joint Data Registry Agreement (JDRA) that functions as a Data Sharing Agreement (DSA) and Data Transfer Agreement (DTA) and is specifically created for registries. The JDRA can be seen as a more advanced DSA/DTA, designed for sharing and transferring data between multiple centres that can later be used for research. To clearly define the roles and responsibilities of all parties and to ensure full GDPR compliance, a national committee of legal departments of 8 Dutch University Medical Centres united in JOAZ (Juridisch Overleg Academische Ziekenhuizen – Legal Advisory Committee of University Medical Centres) have developed the JDRA.

Because the JDRA is tailored to registry-based, multicentre collaborations and helps ensure a consistent legal and governance framework across participating centres we have adopted the JDRA as our standard data sharing agreement. Many centres have already signed the JDRA with us and actively participate in our registries, demonstrating its practicality and acceptance.

In contrast to a Data Sharing Agreement (DSA), which typically focuses on bilateral data sharing, the Joint Data Registry Agreement (JDRA) is specifically designed for multicentre collaborations contributing data to a central infrastructure for future research, making collaboration more efficient. The JDRA is better suited for registry-based, multicentre collaborations, as it not only covers data transfer but also more clearly defines roles, responsibilities, and GDPR compliance.

A disadvantage of using a DSA is that it is designed for bilateral data exchanges rather than a multicentre registry setting. This means that a new agreement would need to be established each time data is shared for a specific study, leading to significant administrative burden and delays.

No. All data contributed to our registries is pseudonymised. We do not collect directly identifiable patient information such as names, addresses, or national identification numbers.

The only potentially sensitive variable collected is the patient’s date of birth. However, even full date of birth is not strictly required. If preferred, centres may provide only the year of birth (e.g. using 1 January as a fictional day and month, but with the correct year) to enable age group categorisation to help support clinically relevant analyses, such as age stratification and demographic reporting.

For an overview of the data we collect we refer you to our Common Data Elements table (page 12/13) as defined in our Core Registry Protocol.

We are unfortunately unable to agree to your local law. The Joint Data Registry Agreement (JDRA) has been specifically created for registries. It is tailored to multicentre collaborations and helps ensure a consistent legal and governance framework across participating centres. Therefore, we can only comply with one governing law, which in this case is Dutch law. Each time a new centre joins our registries, it is not possible for us to adapt the agreement to your local legislation, since we have already signed and agreed with all the other participating centres involved on Dutch law.

The Netherlands is a member of the European Union and is therefore fully subject to strict EU legislation, including the General Data Protection Regulation (GDPR). This ensures that any personal data processed under this agreement is protected in accordance with high European standards for privacy, security, and transparency. As a result, the application of Dutch law provides a robust and reliable legal framework for the governance and management of registry data.

Many centres have already signed our JDRA and actively participate in our registries, demonstrating both its practicality and broad acceptance.

Although clinical registries and clinical trials may both involve the collection of patient data, they are fundamentally different in purpose, design, and regulatory requirements.

A clinical trial is an interventional research study designed to evaluate the safety and efficacy of a specific treatment or intervention. It typically involves a very complex consent process, intensive monitoring, and extensive regulatory paperwork that is required because interventions are actively assigned and safety is closely controlled, including detailed ethics approvals and ongoing reporting obligations.

In contrast, our registry is an observational database. It collects data as part of routine clinical care without assigning interventions or altering treatment decisions. The purpose is to better understand real-world outcomes in patients treated in standard clinical practice. Because of this observational nature, the registry follows a simpler governance and consent process, focused on ethical approval for data collection and compliance with data protection regulations (such as GDPR), rather than the complex regulatory framework required for clinical trials.

Until now, we have not received any data requests from countries outside the EU and therefore have not transferred any data to countries outside the EU.

In principle, and as also described in our Patient Information Folder,  data transfer to countries outside the EU could be possible. However, this would not happen automatically or without careful consideration. Each data request is first reviewed by our Data Access Committee (DAC), which evaluates the application in accordance with our Data Access Policy. Based on this thorough assessment, the DAC makes a well-considered decision on whether a data request can be approved.

Only after DAC approval, and once a formal agreement has been signed with the requesting centre covering the terms as outlined in our Joint Data Registry Agreement (JDRA) and ensuring GDPR-compliant safeguards for international data transfers (including appropriate legal bases and, where applicable, Standard Contractual Clauses), could any data transfer take place.

In the Joint Data Registry Agreement (JDRA) all participating centres (Contributors) are Joint Controllers. Only one contributor (the Coordinator) hosts, controls and manages the registry data. The Leiden University Medical Centre as the coordinating centre acts as a data processor for the technical infrastructure, with the responsibilities defined in Annex B of the JDRA.

Each participating centre remains fully in control of its own data at all times, including the ability to access and delete its own records, and is therefore considered a Joint Controller. However, the responsibilities of a Joint Controller are strictly limited to the data contributed by that centre.

Importantly, centres are not responsible or liable for data submitted by others, and accountability applies only to their own data processing activities. Consequently, a data breach affecting another centre’s data or the central infrastructure would not result in liability for other contributing centres. This clear separation of responsibility is a key principle underlying the agreement.

Under the Joint Data Registry Agreement (JDRA), responsibility for data protection and data breaches is limited to each party’s own control. While contributors are formally designated as Joint Controllers, this does not imply joint liability. Each party, whether a Contributor or the Coordinator acting as processor, is only accountable for its own data processing activities and compliance with GDPR.

In the event of a data breach, the party within whose control the incident occurs is responsible for managing and reporting it. Contributors cannot be held liable for breaches affecting data contributed by other centres or incidents occurring within the central infrastructure, unless caused by their own actions or non-compliance.

Furthermore, the central registry environment is managed with strict security measures in place, and access is role-based and controlled by the coordinating centre Leiden University medical Center. However, since centres only contribute pseudonymised data and retain the key locally, the risk profile is significantly reduced.

The person lawfully representing your institute and authorised to sign the Joint Data Registry Agreement (JDRA) depends on the legal structure of your organisation and your internal rules, but it is often one of the following:

• Director / executive (e.g. CEO, managing director)
• Statutory director (officially registered in the trade register)
• Authorized representative (someone with written authorisation)
• Sometimes: department head or project manager, but only if explicitly authorised

Important, that person must:

• be officially authorised according to the articles of association or trade register registration, or
• have a written power of attorney to sign on behalf of your organisation

An affiliate registry is a high quality detailed condition registry. Signposting health care providers and patients to these registries is one of the central aims of EuRREB. We are achieving this aim by developing a list of Affiliate Registries.

An existing registry can consider to become an affiliate registry because of several different benefits:

• Our information sheets and consent forms can be used for the affiliate registry as well as our Core Registry
• Data entered in our Core Registry can be shared with the affiliate registry
• The affiliate registry will have greater visibility through the EuRREB channels of dissemination
• Greater likelihood of sustaining high quality detailed condition registries
• Opportunities to exchange experiences on the activities and sharing methodological tools for improving the registry quality

Registries seeking affiliate status should complete the Affiliate Registry Form. Please note a separate form should be completed for each registry.

This form has been developed based on the criteria which have been highlighted in the article: “Recommendation for Improving the Quality of Rare Disease Registries”.

These quality criteria have acceptability amongst the rare disease community for the self-evaluation of rare disease registries, with high levels of consensus for the proposed quality criteria reported in the article: “The Quality Evaluation of Rare Disease Registries – An Assessment of the Essential Features of a Disease Registry”.

The possibility of bulk-upload of commen data elements can be discussed with the EuRREB Team, please contact us at: registries@lumc.nl