Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
200 participants
OBSERVATIONAL
2020-11-13
2028-05-31
Brief Summary
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Detailed Description
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* 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
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Study Design
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COHORT
PROSPECTIVE
Interventions
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Analysis of genetic modifiers
Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
Disease phenotyping
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®)
Eligibility Criteria
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Inclusion Criteria
* Sickle cell disease
* Thalassemic syndromes
* Congenital dyserythropoietic anemia
* Enzymopathy
* Unstable Hemoblogin / Altered oxygen affinity
* 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.
Exclusion Criteria
ALL
No
Sponsors
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Hospital Clinic de Barcelona, Barcelona, Spain
UNKNOWN
Institute for Bioengineering of Catalonia
OTHER
Hospital Arnau de Vilanova, Lleida (Spain)
UNKNOWN
Hospital Universitari Vall d'Hebron Research Institute
OTHER
Responsible Party
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Locations
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Hospital de la Santa Creu i Sant Pau
Barcelona, Barcelona, Spain
Hospital Universitari Vall d'Hebron
Barcelona, Barcelona, Spain
Hospital Sant Joan de Déu
Esplugues de Llobregat, Barcelona, Spain
Hospital General de Granollers
Granollers, Barcelona, Spain
Consorci Sanitari del Maresme - Hospital de Mataró
Mataró, Barcelona, Spain
Parc Taulí Hospital Universitari
Sabadell, Barcelona, Spain
Hospital Universitari Mútua de Terrassa
Terrassa, Barcelona, Spain
Consorci Sanitari de Terrassa
Terrassa, Barcelona, Spain
Hospital Universitari Arnau de Vilanova
Lleida, Lleida, Spain
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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Evidence 860436
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
Integra-SCD PI20/01454
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
GA 101095530 - SYNTHEMA
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
GA 101017549 - GENOMED4ALL
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
PR(AMI)427/2021
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
PR(AMI)543/2020
Identifier Type: -
Identifier Source: org_study_id
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