Clinical trial NCT06213402: RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Official title: A Retrospective/Prospective, Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) With Clinical Significance.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sickle Cell Disease
Thalassemia
Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder
Anemia Due to Membrane Defect
CDA
Sideroblastic Anemia
Constitutional Aplastic Anemia
Iron Metabolism Disorders
Hereditary Anemia
Keywords: Sickle Cell Disease
Thalassemia
Red Blood Cell
Rare Hematological Disease
Rare Anemia Disorders
Sickle Cell Disease and Related Diseases
Hemoglobinopathy
Beta-Thalassemia
Alpha-Thalassemia
Sickel Cell Anemia
Pyruvate Kinase Deficiency
Lead sponsor: Hospital Universitari Vall d'Hebron Research Institute
Sponsor class: OTHER
Collaborators: name: Erasme University Hospital
name: Cyprus Institute of Neurology and Genetics
name: EuroBloodNet Association
First posted: 2024-01-19
Enrollment: 32564
Sex: ALL
Minimum age (years): 0
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria

Brief summary: 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.

Detailed description: The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an initiative endorsed by the European Reference Network on Rare Hematological Diseases (ERN-EuroBloodNet) under the frame of the European Blood Disorders Platform (ENROL), the ERN-EuroBloodNet umbrella platform officially endorsed by the European Hematology Association (EHA) for European patients' registries on rare haematological diseases. RADeep will share pseudonymised level data with ENROL.

RADeep supports the standardized collection of data of patients affected by any RADs at the European level, maximizing public benefit from data on RADs opened-up with the only restriction needed to guarantee patient rights and confidentiality, in agreement with the General Data Protection Regulation and applicable laws for cross-border sharing of personal data. RADeep has the following major objectives:

1. To collect and describe the demographics, disease-management, and treatment outcomes of patients diagnosed with RADs
2. To perform observational studies concerning research questions and to present outcomes in the fields of health related to organ damage and risk stratification for identification of trial cohorts for new drugs and/or development of research projects
3. To promote harmonization and best practices in the prevention, diagnosis, treatment and follow-up of RADs patients by the dissemination of reliable Guidelines and the translation of research results into clinical practice.

Eligibility criteria: Inclusion Criteria:

* 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)

Exclusion Criteria:

* 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

Primary outcomes:
measure: Estimation of Prevalence and Incidence of RADs
timeFrame: 15 years
Secondary outcomes:
Other outcomes:
Locations:
city: Barcelona
country: Spain
facility: Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)
state: Catalunya
Study officials:
affiliation: Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)
name: María del Mar Manú Pereira, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital ERASME (ERASME)
name: Béatrice Gulbis, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Cyprus Institute of Neurology and Genetics (CING)
name: Petros Kountouris, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Colombatti, R., Gutiérrez-Valle, V., Diot-Lefebvre, C., Labidi, I., Boaro, M.P., Tamana, S., Kountouris, P., Kleanthous, M., Gulbis,B., Mañú-Pereira, M. (2021, October 20). Rare Anaemia Disorders European Epidemiological Platform (RADeep). 17th Annual Sickle Cell & Thalassaemia Conference and 3rd Annual Academy Sickle Cell & Thalassaemia Conference (ASCAT 2022), London, United Kingdom of Great Britain and Northern Ireland.