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NCT Number: NCT06213402

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

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.

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Key information

Conditions

Sickle Cell Disease Anemia Anemia Due to Membrane Defect Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Sickle Cell Anemia, Sideroblastic Bone Marrow Diseases CDA Congenital, Hereditary, and Neonatal Diseases and Abnormalities Constitutional Aplastic Anemia Cystinosis Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Hemolysis Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder Hereditary Anemia Iron Metabolism Disorders Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Myelodysplastic Syndromes Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Pyruvate Kinase Deficiency of Red Cells Sideroblastic Anemia Thalassemia alpha-Thalassemia beta-Thalassemia

Age range

0 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Barcelona, Catalonia, 08035, Spain

Location status: Recruiting

Location contact

María del Mar Mañú Pereira, PhD

CONTACT

[email protected]

0034934893000

Victoria Gutiérrez Valle, Msc

CONTACT

[email protected]

+34934893000

About this study

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:

  • To collect and describe the demographics, disease-management, and treatment outcomes of patients diagnosed with RADs
  • 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
  • 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Data collection from EHR.

Other

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

Primary outcomes

  1. Estimation of Prevalence and Incidence of RADs

    Time frame: 15 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

María del Mar Manú Pereira, PhD

CONTACT

[email protected]

0034934893000

Victoria Gutiérrez Valle, Msc

CONTACT

[email protected]

0034934893000

Sponsors and collaborators

Lead sponsor

Hospital Universitari Vall d'Hebron Research Institute

Other

Collaborators

  • Cyprus Institute of Neurology and Genetics
  • Erasme University Hospital
  • EuroBloodNet Association

Registry information

Official study title

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

Acronym: RADeep

Important dates

Study start
2021
Primary completion
2024
Study completion
2036
First posted
Jan 19, 2024
Registry last updated
Jan 19, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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