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ILIAD Transparency

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About the ILIAD Registry

The ILIAD Registry (International Library of Intellectual Disability and Anomalies of Development) is a European patient registry dedicated to advancing research, diagnosis, and care for individuals with rare (multiple) malformation syndromes and rare intellectual and other neurodevelopmental disorders of genetic, genomic, chromosomal, or environmental origin. Developed under the umbrella of the European Reference Network (ERN) ITHACA, ILIAD connects healthcare providers from University Hospitals (hereby designated as HCPs: healthcare providers) across the 27 EU member states and Norway, creating a secure and interoperable platform for collecting, storing, and analysing patient data.

The registry serves as a resource for healthcare professionals and researchers, enabling the study of rare diseases natural history, epidemiology and outcomes. By pooling data from diverse sources, ILIAD supports evidence-based management and clinical research, ultimately improving the quality of life for patients and their families. The registry adheres to strict data protection standards, including GDPR compliance, pseudonymization, and secure data storage, ensuring patient privacy and ethical data use.

The registry consists in a “core registry” that includes general information, the clinical diagnosis and the genetic anomalies linked to the diagnosis. For some specific groups of patients, the registry may be extended by a subregistry, that includes more medical data for the patients with those conditions.

Governance: The registry is supervised by a scientific committee – the ILIAD steering committee – that supervises all requests to access the records. The steering committee is set up with persons involved in the governance of ERN ITHACA. It includes patient representatives from EU Patients Advocacy Organisations. Besides the general Steering committee, disease-specific Steering committees supervise the usage of each subregistry.

Why do we need a patient registry combining data from all over Europe?

To optimize care pathways : The rare diseases affect very few people in each country. European registries for rare diseases are a powerful tool to better understand how rare conditions evolve over time and how they affect the daily lives of patients and families. By bringing together information from many people living with the same or related conditions in different countries, they make it possible to follow the natural history of a disease over many years. This helps doctors and researchers to recognise early signs, monitor how symptoms change with age, and identify factors that may influence the course of the disease,. In turn, this knowledge is essential to improve care pathways, organise appropriate follow‑up, identify the most appropriate treatments and develop recommendations that are more closely adapted to patients’ real needs.

To increase knowlegde on rare disorders through medical research : These registries also make it much easier to reach patients and families who may be interested in taking part in medical research. When you agree that your data can be included, the registry can be used to identify people who match the criteria for a specific research project and to contact them in an organised and respectful manner, always in line with data protection and ethical rules. This is particularly important in rare diseases, where patients are few, often scattered across many centres, and difficult to find for researchers working on better diagnostic tools or treatments.

To facilitate access to new, innovative treatments: Most importantly, European registries are a simple and efficient way to share information about new therapies and opportunities to participate in innovative therapeutic trials. They provide a channel through which validated, up‑to‑date information can reach patients and families more quickly, for example when a new treatment becomes available, when a study is opened, or when follow‑up recommendations change. By participating in such a registry, you not only contribute to advancing knowledge about your condition, but you also increase the chances that you and others with the same disease will be informed in time about research opportunities and potential new treatments.

These are the reason why healthcare providers ask for their patients consent to include their data in the ILIAD registry to perform research in accordance with national and European data protection laws and ethics guidelines. Only the data required for such research will be recorded and may be shared with the registry authorised users. Your name, forename and full birthdate or address are not shared. You are identified in the registry only to a pseudonymized code. Your data privacy is secured following the ethical and legal requirements in force. Only your doctor will be able to link your pseudonymized data to you. This is important as we must be able to come back to you if research may have a direct benefice for your health, your follow up or to the access to therapeutic assays. Therefore, the risk of re-identification by unauthorized persons is minimal.

How Data Access Works in the ILIAD Registry

The ILIAD Registry is a secure database that collects and stores information about patients with rare developmental and neurodevelopmental disorders. To ensure that data is used responsibly and ethically, the ILIAD Registry has a structured process for granting access to the information it holds. Here’s how it works:

1. Who Can Access the Data?

The ILIAD Registry allows different groups of people to access its data, depending on their role and the type of data they need. These groups include:

  • Visitors: Anyone can visit the ILIAD Registry website and view general, non-identifiable summary information, such as the total number of patients in the registry or the number of patients with a specific condition. This data are aggregated (grouped together) and does not include any personal details.
  • Registered Users: Healthcare professionals (such as doctors or researchers) who work at hospitals or institutions that are part of the ERN ITHACA network (the ITHACA HCP members) can register to access more detailed, data, only within their own institution. These users must be validated and are typically affiliated with a healthcare provider within the network.
  • Active Registered Users: These are registered users whose institutions have contributed data for at least 50 patients in the last two years. They have access to more detailed, but still pseudonymized, (coded to protect identities), aggregated data within their own institution.
  • Authorized Users: Researchers or experts who are not part of the ERN ITHACA network but need access to data for specific research projects must apply for approval. Their requests are reviewed by the Data Access Committee (DAC), a group of experts that are members of the ILIAD Steering Committee, and includes healthcare professionals, patient representatives, and ethico-legal specialists. If approved, these users can access pseudonymized individual data or aggregated data, depending on the project’s needs. There is a general DAC that evaluate all research requests. When request target one subregistry, the DAC request advice of the sub-registry specific Steering committee, including patient representatives of the subregistry-specific registry Steering committees.
  • Special Users: This group includes experts outside the ERN network, such as researchers from non-EU countries, patient organizations, or policymakers. Their access is evaluated on a case-by-case basis by the DAC and must align with the registry’s goals.
  • Administrators: These are members of the DAC, project managers, and data managers who oversee the registry’s operations, ensuring data is used correctly and securely.

2. What Data Can Be Accessed?

The ILIAD Registry contains different types of data, and access depends on the user’s role and the purpose of their request:

  • Public Data: Available to everyone, this includes general statistics, such the total number of patients entered by country, the list of genes for which at least one patient is recorded, the number of patients carrying a specific gene mutation or diagnosis (if there as less than 5 patients, the number mentioned is “less than 5”). This data are anonymous and always aggregated, meaning they cannot be linked to any individual.
  • Restricted Data: This includes pseudonymized individual patient data, which are accessible only to authorized users (such as researchers or clinicians) after approval by the DAC. Pseudonymized data means that all personal identifiers (like names, forename, full birthdate or addresses) are not shared : patients are only identified by their pseudocode, so individuals cannot be directly identified.
  • Non-Anonymized Data: This type of data, which includes personal identifiers, is only accessible to authorized personnel within the healthcare provider where the data was originally collected. It is never shared outside of that institution.

3. How Is Access Granted?

To ensure that data is used ethically and responsibly, the ILIAD Registry follows a clear process for granting access:

  1. Request Submission: Researchers or experts who need access to data must fill out a Data Request Form, explaining the purpose of their project, the data they need, and how it will be used.
  2. Review by the DAC and, if indicated, members of the registry-specific Steering Co: The DAC reviews each request to ensure it aligns with the registry’s goals and ethical standards. They check:
    1. Whether the project is scientifically valid and likely to contribute to knowledge about rare diseases.
    2. Whether the requester is qualified to use the data.
    3. Whether there are any conflicts of interest or overlaps with other projects.
  3. Approval or Denial: The DAC provides feedback within 4 weeks of receiving a request. If approved, the requester must sign a Data Transfer Agreement, which outlines how the data can be used and ensures compliance with privacy laws (such as GDPR).
  4. Data Sharing: Once approved, the requested data is shared with the researcher. For individual patient data, only pseudonymized records are provided, and the researcher is not given access to personal identifiers.
  5. Ongoing Oversight: The DAC and registry administrators monitor data use to ensure it complies with the agreed terms. Researchers must also acknowledge the ILIAD Registry in any publications or reports that result from using the data.

4. Who Owns the Data?

Patients (or their legal guardians) are the primary owners of their data. They grant permission for their data to be used in the registry through informed consent.

The hospital (HCP) that host the registry is the data controller for the ILIAD Registry, responsible for overseeing data protection and compliance with laws like the GDPR. In Paris, the data controller is Assistance Publique-Hôpitaux de Paris (AP-HP). A list of data controller per HCP is available in this page.

5. How Is Data Kept Secure?

The ILIAD Registry takes data security and privacy seriously. Here’s how your data is protected:

  • Pseudonymization: All personal identifiers are removed and replaced with codes, so individuals cannot be identified from the data.
  • Secure Storage: Data is stored on encrypted servers located in European Union, in compliance with GDPR and other privacy laws.
  • Access Controls: Only authorized users can access the data, and their access is monitored and logged.
  • Data Transfer Agreements: Researchers must agree to terms on how they can use the data.

Why This Matters

The ILIAD Registry’s data access process ensures that patient data are used responsibly, ethically, and securely. By following these steps, the registry supports research while protecting the privacy and rights of every patient. If you have questions or concerns about how your data is used, you can always reach out to the ILIAD Registry team or your healthcare provider for more information.

Transparency Statement for the ILIAD Registry

The ILIAD Registry is committed to transparency, patient rights, and ethical data use. As a participant or the parent/legal representative of a participant in the ILIAD Registry, you have the right to be informed about how your data is used and to exercise control over its use.

Your Rights

  • Right to Information: You have the right to know how your data are being used. In this page dedicated to the Transparency Portal, the ILIAD Registry will publish project outlines for all research studies that are validated by the Data Access Committee to make use of the data stored in the registry. The outlines will be available on our Transparency Portal, ensuring that you are informed about the purpose, scope, and objectives of each study.
  • Right to Opt-Out: Participation in the ILIAD Registry is voluntary, and you have the right to opt out of the registry at any time without providing a reason. If you choose to opt out, your data will no longer be used in new research projects. However, data that has already been processed for ongoing or completed studies may still be retained to ensure the validity of the research, in compliance with applicable laws and ethical guidelines.
  • Right to Opt-Out of Specific Studies: If you do not wish for your data to be included in a particular research project, you have the right to opt out of that specific study. The outlines of all projects using ILIAD data will be published on the Transparency Portal, allowing you to review and decide whether you want your data to be included. If you choose to opt out of a specific study, your data will not be used for that project.

Transparency Portal

The ILIAD Transparency Portal is designed to provide clear and accessible information about all research projects that use data from the registry. The portal will include:

  • Project outlines for each study, detailing the objectives, methodology, and expected outcomes.
  • Contact information for the research teams and the ILIAD Registry coordination team from yor HCP, allowing you to ask questions or express concerns.
  • Opt-out mechanisms, enabling you to exclude your data from specific studies or the registry entirely.

The Transparency Portal ensures that you remain informed and empowered to make decisions about the use of your data. It reflects our commitment to ethical research practices, patient-centered care, and accountability.

How to Exercise Your Rights

  • To opt out of the ILIAD Registry or a specific study, please contact your primary healthcare provider. You can also contact the ILIAD Registry team at coordination@ern-ithaca.eu (different email to be put in place). Your request will be processed promptly, and your preferences will be respected.
  • For questions about the Transparency Portal or the use of your data contact the ILIAD Registry team.

The ILIAD Registry is dedicated to protecting your privacy and ensuring that your data is used responsibly and ethically. We adhere to strict data protection standards, including the GDPR and prioritize transparency, consent, and patient rights in all our activities. By participating in the ILIAD Registry, you contribute to advancing research, diagnosis, and treatment for rare developmental and neurodevelopmental disorders, ultimately improving care for patients like you and your family.

Thank you for being a part of this important initiative. Your trust and participation are invaluable to us.