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

NCT06213402 | Recruiting

• 1 other identifier: PR(AMI)427/2021
• Study Type: observational
• Target: 32,564
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (4)

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.

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.

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.

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.

Interventions

Data collection from EHR. OTHER

Collection of clinical and laboratory data. Reviwe of the electronic health record

Pyruvate Kinase Deficiency and related diseases; Red Blood Cell membrane disorders and related diseases; Sickle cell anaemia and other related sickle diseases; Thalassemia and related diseases

Eligibility Criteria

• Age: 0 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• Hospital Universitari Vall d'Hebron Research Institute: lead
• Erasme University Hospital: collaborator
• Cyprus Institute of Neurology and Genetics: collaborator
• EuroBloodNet Association: collaborator

Study Sites (1)

Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)

Barcelona, Catalonia, 08035, Spain

RECRUITING

Related Publications (1)

• 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.

  BACKGROUND

Related Links

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

MeSH Terms

Conditions

Anemia, Sickle Cell; Thalassemia; Hemolysis; Anemia; Anemia, Sideroblastic; Cystinosis; Iron Metabolism Disorders; Hemoglobinopathies; beta-Thalassemia; alpha-Thalassemia; Pyruvate Kinase Deficiency of Red Cells

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Myelodysplastic Syndromes; Bone Marrow Diseases; Lysosomal Storage Diseases; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• 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)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

María del Mar Manú Pereira, PhD

CONTACT

0034934893000; mar.manu@vhir.org

Victoria Gutiérrez Valle, Msc

CONTACT

0034934893000; victoria.gutierrez@vhir.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 4, 2023
• First Posted: January 19, 2024
• Study Start: November 30, 2021
• Primary Completion: December 1, 2024
• Study Completion (Estimated): November 1, 2036
• Last Updated: January 19, 2024

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)