Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation. Different medical entities classified as RADs by ORPHA classification are most of them chronic life threating disorders with many unmet needs for their proper clinical management creating an impact on European health systems. RADs present diagnostic challenges and their appropriate management requires from specialised multidisciplinary teams in Centers of expertise.
Although there are some examples of well-established national registries on RADs in EU, the lack of recommendations for Rare disease registries implementation and the lack of standards for interoperability has led to the fragmentation or unavailability of data on prevalence, survival, main clinical manifestations or treatments in most of the European countries.
Patients must meet all of the following criteria to be included in the RADeep Registry
Age from 0-100, both female and male
Diagnosed as RADs (SCD, THAL, PKD, and other RADs THAL according to ORPHANET classification)
Able and willing to provide written informed consent (patient or legal representative for minors)
Patient or legal representative for minors unwilling or unable to give consent
Patients diagnosed with SCD or THAL (alpha-thalassaemia and beta-thalassaemia) traits or trait conditions for other recessive RADs
Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria
Cohort
Prospective
Data collection from EHR.
Other interventionCollection of clinical and laboratory data. Reviwe of the electronic health record
Estimation of Prevalence and Incidence of RADs
Demography and epidemiology To collect and to describe demographics and epidemiological data of any type of RADs: * Estimate the population frequency of each RAD disease group and disease survival * Estimate the diagnosis delay * Identify cohorts of patients for research/clinical trials * Estimate disease severity * Assess the use of specific treatments Descriptive analyses will be undertaken at the end of the follow-up period using standard statistical methods to examine the subjects' demographics, disease characteristics and management. Data is updated yearly in an electronic CRF form while assuring homogenization in categorization and units. Time-to-event analyses, namely Kaplan-Meier and Cox proportional hazard regression will be used to estimate overall survival. Multivariate Cox proportional hazards regression models will be used to identify variables that are important to correlate survival.
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Hospital Universitari Vall d'Hebron Research Institute
Lead sponsor
Erasme University Hospital
Collaborator
Cyprus Institute of Neurology and Genetics
Collaborator
EuroBloodNet Association
Collaborator
