Sickle Cell DiseaseRADeepNCT06213402
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
An observational study of Sickle Cell Disease and Thalassemia, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
Trial 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… Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder
- What is being tested?
- Data collection from EHR.
- How many people
- 32,564 participants
- Where
- 1 siteSpain
- Study dates
- 30 Nov 2021to Nov 2036
- How long will I take part?
- 15 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Spain1 site, 1 recruiting
- Recruiting
Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)
Barcelona, Catalonia, 08035
María del Mar Mañú Pereira, PhD, 0034934893000, mar.manu@vhir.org
Victoria Gutiérrez Valle, Msc, +34934893000, victoria.gutierrez@vhir.org
About this study
Official title: 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.
Read the 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:
- 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.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect, CDA, Sideroblastic Anemia
- Being tested
- Data collection from EHR.
- 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
- Medical subject headings
- Anemia, Sickle Cell, Thalassemia, Hemolysis, Anemia, Anemia, Sideroblastic, Cystinosis, Iron Metabolism Disorders, Hemoglobinopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data collection from EHR.Other
Collection of clinical and laboratory data. Reviwe of the electronic health record
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: 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. Receives: 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. Receives: 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. Receives: Other: Data collection from EHR. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2024
- Study start30 Nov 2021
- Primary completionDec 2024 (estimated)
- Study completionNov 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Sickle Cell DiseaseStudies of the same condition, open and under way.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 32,564 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Erasme University Hospital, Cyprus Institute of Neurology and Genetics, EuroBloodNet Association
- Responsible party
- Sponsor
- Investigators
- María del Mar Manú Pereira, PhD, Principal investigator, Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)Béatrice Gulbis, MD, Principal investigator, Hôpital ERASME (ERASME)Petros Kountouris, PhD, Principal investigator, Cyprus Institute of Neurology and Genetics (CING)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06213402
- Sponsor's protocol ID
- PR(AMI)427/2021
- Acronym
- RADeep
- Status last verified
- Dec 2023
- First submitted
- 4 Dec 2023
- Last updated
- 19 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
Study at a glance
From the registry record, last updated by the sponsor on 19 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective/Prospective, Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) With Clinical Significance.
- ClinicalTrials.gov ID
- NCT06213402
- Acronym / sponsor ID
- RADeep / PR(AMI)427/2021
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect, CDA, Sideroblastic Anemia
- Keywords
- Sickle Cell Disease, Thalassemia, Red Blood Cell, Rare Hematological Disease, Rare Anemia Disorders, Sickle Cell Disease and Related Diseases, Hemoglobinopathy, Beta-Thalassemia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 32,564 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- Erasme University Hospital, Cyprus Institute of Neurology and Genetics, EuroBloodNet Association
- Study start
- 30 Nov 2021 (actual)
- Primary completion
- Dec 2024 (estimated)
- Study completion
- Nov 2036 (estimated)
- First posted
- 19 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 15 Years
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Sickle cell anaemia and other related sickle diseases | – | Other: Data collection from EHR.Patients with sickle cell disease and related diseases in current regular follow-ups in European-Union health centers |
| Thalassemia and related diseases | – | Other: Data collection from EHR.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. |
| Pyruvate Kinase Deficiency and related diseases | – | Other: Data collection from EHR.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. |
| Red Blood Cell membrane disorders and related diseases | – | Other: Data collection from EHR.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. |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Rade Anemia Disease between 0 - 100 years old that accomplish all the inclusion criteria
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Data collection from EHR.Collection of clinical and laboratory data. Reviwe of the electronic health record | Other | 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 |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jan 2024.
- BackgroundColombatti, 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.
- EU EurobloodNet offficial WebsiteLink provided by the sponsor.
- RADeep Official WebsiteLink provided by the sponsor.
- European Commission website section on European Reference NetworksLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
María del Mar Manú Pereira, PhD principal investigator
Vall d'hebron Research Institute - Vall d'Hebron Research Institute - University Hospital Vall d'Hebrón (VHIR/HUVH)
Béatrice Gulbis, MD principal investigator
Hôpital ERASME (ERASME)
Petros Kountouris, PhD principal investigator
Cyprus Institute of Neurology and Genetics (CING)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sickle Cell Disease and Thalassemia, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact María del Mar Manú Pereira, PhD (0034934893000, mar.manu@vhir.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Estimation of Prevalence and Incidence of RADs (time frame: 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06213402, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jan 2024.