Sickle Cell DiseaseINTEGRANCT07206095
Integrative Diagnosis for SCD and Other RADs
An observational study of Sickle Cell Disease and Thalassaemia, run by Hospital Universitari Vall d'Hebron Research Institute at 9 sites in Spain.
Trial summary
INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA)
- What is being tested?
- Analysis of genetic modifiers and Disease phenotyping
- How many people
- 200 participants
- Where
- 9 sitesSpain
- Study dates
- 13 Nov 2020to May 2028
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia.
Who may be able to join
- Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:
- Sickle cell disease
- Thalassemic syndromes
- Congenital dyserythropoietic anemia
- Enzymopathy
- Unstable Hemoblogin / Altered oxygen affinity
Show all 13Show fewer
- Hereditary stomatocytosis
- Hereditary pyropoikilocytosis
- Hereditary spherocytosis with severe anemia (<8 g/dL) or inconclusive diagnosis:
- Patient with chronic hemolytic anemia and red cell smear compatible, but with:
- EMA binding test: inconclusive or negative
- Genetic testing: no definitive diagnosis (VUS or no findings)
- Not transplanted or undergoing gene therapy at the time of inclusion. Patients with graft failure without a new transplant may be included.
Who cannot join
- Carrier traits in autosomal recessive hereditary anemias
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
9 sites in 1 country
Spain9 sites, 9 recruiting
- Recruiting
Hospital de la Santa Creu i Sant Pau
Barcelona, Barcelona, 08025
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Hospital Universitari Vall d'Hebron
Barcelona, Barcelona, 08035
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Hospital Sant Joan de Déu
Esplugues de Llobregat, Barcelona, 08950
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Hospital General de Granollers
Granollers, Barcelona, 08402
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Hospital Universitari Arnau de Vilanova
Lleida, Lleida, 25198
- Recruiting
Consorci Sanitari del Maresme - Hospital de Mataró
Mataró, Barcelona, 08304
- Recruiting
Parc Taulí Hospital Universitari
Sabadell, Barcelona, 08208
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Hospital Universitari Mútua de Terrassa
Terrassa, Barcelona, 08221
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
- Recruiting
Consorci Sanitari de Terrassa
Terrassa, Barcelona, 08227
Anna collado gimbert, 680810602, annacolladogimbert@gmail.com
About this study
Official title: Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies.
Read the detailed description
Objectives:
- To assess the prognostic value of LoRRca (ektacytometry) as biomarker providing information of SCD/RADs patients severity
- To investigate the correlation between LoRRca parameters and SCD/RADs patients genetic and phenotypic characterization.
- To identify genetic modifiers of RADs both new and previously described by GWAS as markers for prognosis and clinical course based on genomics approach.
- To establish an innovative algorithm for RADs patients characterization based on the integration of data generated through the analysis of genetic modifiers and the RBCs rheological properties by LoRRca profiles and microfluidics data in combination with RADs patients' clinical manifestations and treatments.
- To model the progression of RADs in a spleen-like filtering unit using microfluidic technologies to develop a novel diagnostic device for prognosis and patients' stratification. This device will be used for the characterization under flow of rheological and mechanical properties of single RBCs.
- To translate the results on a clinical practice recommendation for management of RADs patients endorsed by European Hematology bodies as ERN-EuroBloodNet and/or the European Hematology Association for its wide dissemination.
- Conditions
- Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA), Enzyme Disorder; Anemia, Spherocytosis, Hereditary, Stomatocytosis
- Being tested
- Analysis of genetic modifiers, Disease phenotyping
- Keywords
- SICKLE CELL DISEASE, RARE ANEMIA DISORDERS, PERSONALIZED MEDICINE, DIAGNOSIS, EKTACYTOMETRY
- Medical subject headings
- Anemia, Sickle Cell, Thalassemia, Anemia, Dyserythropoietic, Congenital, Anemia, Spherocytosis, Hereditary, Hemoglobinopathies, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Analysis of genetic modifiersGenetic
Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
Disease phenotypingDiagnostic test
Peripheral blood samples will be used for conventional phenotyping characterization including among others: RBCs morphology, fragility osmotic test, hemoglobin fraction and quantification, hemoglobin stability test, EMA binding test, RBC enzymes quantification assay, RBC rheological properties through Lorrca Maxsis Osmoscan/Oxygescan (Lorrca®)
What is being measured
The primary outcome is the main question the study is designed to answer.
To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity
Severity was assesed as the occurence of:
- Vaso-occlusive events (VOEs) in the last 24 months
- Kidney injury (defined according to KDIGO guidelines)
- Retinopathy (defined as proliferative and non proliferative)
Measured: Through study completion, an average of 2 year
Secondary outcomes (1)
To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization.
Genomic data will be generated using a targeted next-generation sequencing (tNGS) approach.
Means, medians, standard deviations (SD), ranges and percentages were calculated using SPSS software (version 20, IBM SPSS Statistics, Chicago, IL, USA). Spearman's rank correlation was used to assess associations between variables. For comparing variables with two categories, either a student's t-test or a Mann-Whitney U test was performed, when appropriate. When the variable had more than two categories, an ANOVA or Kruskal Wallis test was used. A p value <0.05 was considered statistically significant.
Measured: Through study completion, an average of 2 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Oct 2025
- Study start13 Nov 2020
- Primary completion25 May 2025
- Study completionMay 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- 200 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Hospital Clinic of Barcelona, Institute for Bioengineering of Catalonia, Hospital Arnau de Vilanova, Lleida (Spain)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07206095
- Sponsor's protocol ID
- PR(AMI)543/2020
- Other IDs
- Evidence 860436, Integra-SCD PI20/01454, GA 101095530 - SYNTHEMA, GA 101017549 - GENOMED4ALL, PR(AMI)427/2021
- Acronym
- INTEGRA
- Status last verified
- Sep 2025
- First submitted
- 16 Sep 2025
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
- ClinicalTrials.gov ID
- NCT07206095
- Acronym / sponsor ID
- INTEGRA / PR(AMI)543/2020
- Conditions
- Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA), Enzyme Disorder; Anemia, Spherocytosis, Hereditary, Stomatocytosis
- Keywords
- SICKLE CELL DISEASE, RARE ANEMIA DISORDERS, PERSONALIZED MEDICINE, DIAGNOSIS, EKTACYTOMETRY
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- Hospital Clinic of Barcelona, Institute for Bioengineering of Catalonia, Hospital Arnau de Vilanova, Lleida (Spain)
- Study start
- 13 Nov 2020 (actual)
- Primary completion
- 25 May 2025 (actual)
- Study completion
- May 2028 (estimated)
- First posted
- 3 Oct 2025 (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.
INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies.
Detailed description
Objectives:
- To assess the prognostic value of LoRRca (ektacytometry) as biomarker providing information of SCD/RADs patients severity
- To investigate the correlation between LoRRca parameters and SCD/RADs patients genetic and phenotypic characterization.
- To identify genetic modifiers of RADs both new and previously described by GWAS as markers for prognosis and clinical course based on genomics approach.
- To establish an innovative algorithm for RADs patients characterization based on the integration of data generated through the analysis of genetic modifiers and the RBCs rheological properties by LoRRca profiles and microfluidics data in combination with RADs patients' clinical manifestations and treatments.
- To model the progression of RADs in a spleen-like filtering unit using microfluidic technologies to develop a novel diagnostic device for prognosis and patients' stratification. This device will be used for the characterization under flow of rheological and mechanical properties of single RBCs.
- To translate the results on a clinical practice recommendation for management of RADs patients endorsed by European Hematology bodies as ERN-EuroBloodNet and/or the European Hematology Association for its wide dissemination.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia.
Key inclusion criteria (13 listed)
- Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:
- Sickle cell disease
- Thalassemic syndromes
- Congenital dyserythropoietic anemia
- Enzymopathy
Key exclusion criteria (1 listed)
- Carrier traits in autosomal recessive hereditary anemias
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 |
|---|---|---|
| Analysis of genetic modifiersGenetic modifiers for rare anemia disorders will be analyzed through massive sequencing. | Genetic | – |
| Disease phenotypingPeripheral blood samples will be used for conventional phenotyping characterization including among others: RBCs morphology, fragility osmotic test, hemoglobin fraction and quantification, hemoglobin stability test, EMA binding test, RBC enzymes quantification assay, RBC rheological properties through Lorrca Maxsis Osmoscan/Oxygescan (Lorrca®) | Diagnostic test | – |
Primary outcome
To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity
Time frame: Through study completion, an average of 2 year
Severity was assesed as the occurence of: * Vaso-occlusive events (VOEs) in the last 24 months * Kidney injury (defined according to KDIGO guidelines) * Retinopathy (defined as proliferative and non proliferative)
1 secondary outcome
To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization.
Time frame: Through study completion, an average of 2 year
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 3 Oct 2025.
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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.
9 sites 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 Thalassaemia, run by Hospital Universitari Vall d'Hebron Research Institute at 9 sites 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 13 inclusion and 1 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 3 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites 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 Mar Mañú Pereira PhD (+34 93 489 4063, mar.manu@vhir.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity (time frame: Through study completion, an average of 2 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 3 Oct 2025.