Frequently asked questions

To provide researchers, healthcare providers, patients and policy-makers with a consistent instrument to improve knowledge, diagnosis and treatment of rare diseases.

ERDRI makes participating rare disease registries' data searchable at EU level and standardizes data collection and data exchange. Therefore, adding your registry to ERDRI will increase its value and ease its registration.

Go to the following link https://eu-rd-platform.jrc.ec.europa.eu to access the homepage of the EU RD Platform and click on the first image labeled “European Rare Disease Registry Infrastructure (ERDRI)”.

Go to the following link https://eu-rd-platform.jrc.ec.europa.eu/erdri-description to access ERDRI’s description page and click on the yellow button “Access ERDRI tools”.

No. Upon clicking the yellow button “Access ERDRI tools”, you will be presented with two options: “Browse anonymously” or “Proceed to log in”. Use the “Browse anonymously” option if you do not have an account. However, this is a “read-only” option with limited access to information.

You can create an ERDRI account if you have a valid email address. Upon clicking the yellow button “Access ERDRI tools”, proceed by clicking the “Proceed to log in” button and follow the instructions. You can also view the “Logging into ERDRI” tutorial for more information.

You need to have a login account first to become a verified user. Then you can use the contact form to send a message requesting verification. Once verified, you can enter data about your registry into ERDRI.

Go to ERDRI’s homepage at https://eu-rd-platform.jrc.ec.europa.eu/erdri and click on the first image labeled “European Directory of Registries (ERDRI.dor)”.

On the start page of ERDRI.dor, click on the “Add registry” tab and complete the required information. Note that you can only add registries if you already have a login account that has been verified.

To add a registry to ERDRI.dor, you will need to provide at least some general information including the registry’s name, medical area, type, and description; rare disease(s) addressed by the registry; information on the structure of the registry including recruitment area, recruitment country, current number of cases, data source(s), number of data elements collected, and software used; some registry information including institution, department, address, and country; information about the responsible person for the registry including first and last names, email address, and phone number; and a EUPID short and extended name for the registry.

EUPID is a tool that offers patient pseudonymization, thus keeping any identifying information about patients secure.

On the start page of ERDRI.dor, you have three ways to search for registries. First is by clicking a country on the map to view registries of that country. Second is by typing the registry’s name or description in the “Search” box and clicking the “Search” button. Third is by clicking the “Search” tab to start an advanced search. The “List all” button can also be used to list all registries saved in ERDRI.dor.

No. The “Browse anonymously” option could be used here too. Yet, only limited registry information will be displayed.

You can search for registries by one, some, or all of the following: name, rare disease, responsible person, country, year of recruitment, and type.

If you are logged in, you will be presented in the search results with the name of the registry, its description, medical area, country, and website. Clicking on a registry’s name will display further details about the registry. In case you are browsing anonymously, you will only be able to view registries’ names.

You can search for your registry in ERDRI.dor then click on the pencil symbol next to your registry’s details in the search results. However, you have to be a verified user to edit the content of your registry.

Yes. You can contact the JRC and ask for disabling your registry in ERDRI.dor. The disabled registry won’t be visible anymore in ERDRI.dor.

Go to ERDRI’s homepage at https://eu-rd-platform.jrc.ec.europa.eu/erdri and click on the second image labeled “Central Metadata Repository (ERDRI.mdr)”.

On the start page of ERDRI.mdr, click on the “New” tab and choose “New Dataelement” from the list. Note that you can only add data elements if you already have a login account that has been verified.

On the start page of ERDRI.mdr, click on the “New” tab and choose “New Dataelementgroup” from the list for inserting data element groups or “New Record” for inserting records. Note that you can only add data element groups or records if you already have a login account that has been verified.

If the “New” tab is not visible to you, it is either because you are not logged in, you are not verified, or no namespaces have been created for you in ERDRI.mdr.

A data element represents a data field in your registry such as a patient’s age, gender, or date of birth. A data element group can be created to structure a namespace that contains a large number of data elements, basically by gathering related data elements under one group. For instance, a data element group titled “Personal Information” can be used to group the data elements age, gender, and date of birth. Records are used for data fields that have a composite nature. For instance, a record of two entries can be created for a blood pressure field, with its first entry being the systolic blood pressure value and its second entry being the diastolic blood pressure value.

A namespace within ERDRI.mdr is the personal workspace where data elements of a registry are added. Ideally, a namespace should be created for each of your registries and it should be given the name of the registry. Namespaces are created by the admin and each user is granted “read”, “read, write”, or “read, write, admin” permissions. Only users with “admin” permission can edit the namespace permissions, and edit, delete, or release data elements of this namespace.

The designation is the name of the data element or the data field in your registry while the definition is a description of what the data element represents. For instance, a data element could have the designation “Patient Status” and the definition “Patient alive, deceased, opted-out, or lost in follow-up”.

Multiple definitions are generally needed when the data element is to be defined in multiple languages. Optimally, a data element should at least be defined in English and in the language of the registry’s country.

One of eight validation types can be used depending on what the data element represents. These include list of permitted values which can be used when the data element could have one of several possible values. For instance, the data element “Gender” could have “male, female, or undetermined” as its list of permitted values. Other validation types include integer (whole numbers), float (decimal numbers), boolean (true or false), string (free text), date, time, and date-time.

These are key-value pairs that can be used to provide additional information about a data element that will not be executed by ERDRI.mdr.

Once a data element is released, certain properties cannot be edited anymore. For that, it is always recommended to use the “Finish as draft” option when changes to the data element are still necessary or when it is yet to be checked by other persons. Use the “Finish and release” option only when the data element is finalized and ready to be released.

Yes and No. Provided you have admin permissions within the data element’s namespace, you can mark a data element as outdated.

Data elements in draft status can be edited at all times without restriction. Released data elements, on the other hand, can only be edited to a limited extent (e.g. validation type cannot be changed), provided you have the proper permissions. Released data elements, however, could still be deleted and recreated, in case further edits are necessary.

Yes and no. Edits to a data element group such as adding new or deleting existing data elements, or changing the group’s definitions can be done at all times. Data element groups can also be marked as outdated but, not removed.

On the start page of ERDRI.mdr, released data elements can be viewed by clicking on the “View” tab. Draft data elements can be found by clicking the “My drafts” tab.

Revisions include previous versions of a released data element that has been edited.

On the start page of ERDRI.mdr, click on the “Search” tab and select your search options. You can then use the search box to type in names or parts of the names of the data elements you would like to search for. You can also choose to limit your search to data elements or data element groups as well as to those having the status of draft, released, or outdated.

The outdated status is assigned to released data elements that have been deleted or to previous versions of a released data element that has been edited.

As changes to a released data element are only permitted to a limited extent, the data element to be edited could then be recreated and deleted. The “Use this element as template” option can then be used to create a new data element with the same specifications of the original element. The necessary adjustments could then be made to the new element and the original element can then be deleted.