The meeting, held on September 17th, brought together 21 representatives from nine countries to review the registry's progress and define the main work lines for the next two years. Established in 2017, RADeep complies with the General Data Protection Regulation (GDPR) and integrates information from reference centers and local and national registries to promote research, improve epidemiological surveillance, and facilitate access to treatments.
Currently, the registry involves 180 hospital centers, with 115 actively entering patient data. The platform collects information on 16 groups of rare diseases and undiagnosed cases, and allows for periodic consultation of epidemiological data through panels available on its website.
The meeting was led by Dr. María del Mar Mañú Pereira, RADeep coordinator and head of the VHIR's Rare Anemia Laboratory. Participants included members of the Steering Committee, principal investigators, and national representatives from Belgium, Spain, France, Greece, Italy, Norway, the Netherlands, Portugal, and Switzerland, which joined the network this year.
The Data Access Committee is responsible for evaluating third-party requests for registry access and ensuring that the use of information complies with ethical, legal, and scientific requirements. The meeting also addressed regulatory updates and strengthened collaboration among participating countries.
A key topic was data quality and its potential to support regulatory studies. RADeep is collaborating with the European Medicines Agency (EMA) on a joint ERN-EMA workshop, planned for spring 2027, to update guidelines for registry-based studies. RADeep's Data Quality Framework is already approximately 80% aligned with the requirements for the future European Health Data Space (EHDS).
Two developing platforms were also presented to expand research possibilities: RADiANT-CT for clinical trials and RADiANT-CORE for advanced research, including artificial intelligence and federated analyses. The network is preparing its first manuscript on sickle cell disease and has submitted abstracts to Hematology congresses.
Priorities for 2026-2027 include revising the data collection form (CRF) by April 2027, training sessions on genetic nomenclature, and a pilot project in Catalonia to collect patient-reported outcomes (PROMs).
