RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) (RADeep)

A Retrospective/Prospective, Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) With Clinical Significance.

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.

Study Overview

• Status: Recruiting
• Conditions: Iron Metabolism Disorders; Sickle Cell Disease; Thalassemia; Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder; Anemia Due to Membrane Defect; CDA; Sideroblastic Anemia; Constitutional Aplastic Anemia; Hereditary Anemia
• Intervention / Treatment: Other: Data collection from EHR.

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.

• Study Type: Observational
• Enrollment (Estimated): 32564

Contacts and Locations

• Study Contact: Name: María del Mar Mañú Pereira, PhD; Phone Number: 0034934893000; Email: mar.manu@vhir.org
• Study Contact Backup: Name: Victoria Gutiérrez Valle, Msc; Phone Number: 0034934893000; Email: victoria.gutierrez@vhir.org

Study Locations

• Spain
  • Catalunya
    • Barcelona, Catalunya, Spain, 08035
      • Recruiting
      • Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)
      • Contact: María del Mar Mañú Pereira, PhD; Phone Number: 0034934893000; Email: mar.manu@vhir.org
      • Contact: Victoria Gutiérrez Valle, Msc; Phone Number: +34934893000; Email: victoria.gutierrez@vhir.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Sickle cell anaemia and other related sickle diseases; Patients with sickle cell disease and related diseases in current regular follow-ups in European-Union health centers	Other: Data collection from EHR.; Collection of clinical and laboratory data. Reviwe of the electronic health record
Thalassemia and related diseases; Patients with Thalassemia disease and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.	Other: Data collection from EHR.; Collection of clinical and laboratory data. Reviwe of the electronic health record
Pyruvate Kinase Deficiency and related diseases; Patients with Pyruvate Kinase Deficiency and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.	Other: Data collection from EHR.; Collection of clinical and laboratory data. Reviwe of the electronic health record
Red Blood Cell membrane disorders and related diseases; Patients with Reb Blood Cell membrane disorders and related diseases in current regular follow-ups in European-Union health centers, stratified by age, gender, and/or variants/type if applicable.	Other: Data collection from EHR.; Collection of clinical and laboratory data. Reviwe of the electronic health record

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	15 years

Collaborators and Investigators

• Sponsor: Hospital Universitari Vall d'Hebron Research Institute
• Collaborators: Erasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet Association
• Investigators: Principal Investigator: María del Mar Manú Pereira, PhD, Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH); Principal Investigator: Béatrice Gulbis, MD, Hôpital ERASME (ERASME); Principal Investigator: Petros Kountouris, PhD, Cyprus Institute of Neurology and Genetics (CING)

Publications and helpful links

General Publications

• 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.

Helpful Links

• EU EurobloodNet offficial Website
• RADeep Official Website
• European Commission website section on European Reference Networks

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2021
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): November 1, 2036

Study Registration Dates

• First Submitted: December 4, 2023
• First Submitted That Met QC Criteria: January 9, 2024
• First Posted (Actual): January 19, 2024

Study Record Updates

• Last Update Posted (Actual): January 19, 2024
• Last Update Submitted That Met QC Criteria: January 9, 2024
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Keywords: Red Blood Cell; Thalassemia; Sickle Cell Disease; Beta-Thalassemia; Hemoglobinopathy; Pyruvate Kinase Deficiency; Alpha-Thalassemia; Rare Hematological Disease; Rare Anemia Disorders; Sickle Cell Disease and Related Diseases; Sickel Cell Anemia
• Additional Relevant MeSH Terms: Metabolic Diseases; Kidney Diseases; Urologic Diseases; Bone Marrow Diseases; Hematologic Diseases; Genetic Diseases, Inborn; DNA Repair-Deficiency Disorders; Anemia, Hemolytic; Hemoglobinopathies; Anemia, Hypoplastic, Congenital; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Renal Tubular Transport, Inborn Errors; Myelodysplastic Syndromes; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Anemia; Anemia, Sickle Cell; Fanconi Syndrome; Fanconi Anemia; Thalassemia; Anemia, Aplastic; Iron Metabolism Disorders; Anemia, Hemolytic, Congenital; Anemia, Sideroblastic
• Other Study ID Numbers: PR(AMI)427/2021

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No