Registry Workgroup

Workpackage lead

Pr Alessandra Renieri (Siena, Italy)

Key objectives

The main objective of this WP is to set up an interoperable registry dedicated to rare diseases within the scope of ITHACA called ILIAD Rare Diseases patient registry: an International Library of Intellectual disability and Anomalies of Development .

We intend to develop a single, trans-ERN “meta-registry” (ILIAD) of patients with developmental anomalies (dysmorphic/Multiple Congenitital Anomalies syndromes and/or Iintellectual Disabilities) recruited by ERN ITHACA, patients with several developmental disorders affecting the head recruited by ERN-CRANIO, and patients with connective tissue disorders recruited by ERN SKIN.

ILIAD will register 3 types of patients:

  • genetically-defined patients (patients must have a genetic/genomic diagnosis to be recorded),
  • clinically defined patients (patients must have a precise clinical diagnosis with a disease-level ORPHA code),
  • and undiagnosed patients

The meta-registry we propose to set up will provide a unifying structure in which patients with a very wide range of poorly known and individually exceptional developmental diseases can be registered and classified, thereby providing and improving access to these patients and cohorts for researchers, healthcare providers and policy makers. The aforementioned difficulties in categorizing these patients and syndromes will be overcome by determining a very basic minimal dataset focussing on their aetiopathogeny and including genetic descriptors in order to achieve a first-order registry, followed by more detailed datasets for specific syndromes or types of anomalies. To support the findability and interoperability of the ILIAD registry, the registry will be connected to the European Rare Disease Registry Infrastructure.

ILIAD registry faces 2 major constraints:

  • Firstly, ITHACA is amongst the ERNs that cover the highest number and variety of inherited diseases. Even where these diseases are clearly defined, some have only been identified in a handful of patients across Europe, or even in the world. The ERN structure, by bringing together HCPs specialising in these diseases from a large number of countries, improves the correct identification and genotypic and phenotypic description of these disorders, and thus the repertory of their patients.
  • Secondly, because of the diversity of presentations involved, any common ITHACA database must obviously be limited in terms of the data fields covered. However, as the fields will focus on aetiopathogeny, the register will be easily shareable or transferable to other multiple genetic disorders with wide heterogeneity. Cooperation between several ERNs  has greatly contributed to the development of this project and will ensure that the resulting registry or underlying structure will be fully exploited. Among ERNs that could share or contribute to the registry are those dealing with other genetic disorders, developmental anomalies or malformations, or multisystemic syndromes that resist classification.

The registry will be developed with a specific grant from the Consumers, Health, Agriculture and Food Executive Agency (CHAFEA) EU agency. The IT infrastructure will be developped by Pr Morris Swertz, at the Groningen Genomics Coordination Center (GCC), a bioinformatics core facility and big data stewardship hotel shared the University Medical Centre and the niversity of Groningen (The Netherlands)

Deliverables

  • Registry infrastructure

    Develop a network of interoperable client registies hosted by Hospitals within the network, and a central registry. Data will be hosted by default in local registries, and made interoperable.

  • Connecting professional registries

    Connect ILIAD registry with at least one external registry and one biobank.

  • Connect patient-driven registries

    Connect ILIAD with at least one registry developped and supported by patients and/or families.