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.
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 Type
OBSERVATIONAL
Enrollment
200
Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
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®)
Hospital de la Santa Creu i Sant Pau
Barcelona, Barcelona, Spain
RECRUITINGHospital Universitari Vall d'Hebron
Barcelona, Barcelona, Spain
RECRUITINGHospital Sant Joan de Déu
Esplugues de Llobregat, Barcelona, Spain
RECRUITINGHospital General de Granollers
Granollers, Barcelona, Spain
RECRUITINGConsorci Sanitari del Maresme - Hospital de Mataró
Mataró, Barcelona, Spain
RECRUITINGParc Taulí Hospital Universitari
Sabadell, Barcelona, Spain
RECRUITINGHospital Universitari Mútua de Terrassa
Terrassa, Barcelona, Spain
RECRUITINGConsorci Sanitari de Terrassa
Terrassa, Barcelona, Spain
RECRUITINGHospital Universitari Arnau de Vilanova
Lleida, Lleida, Spain
RECRUITINGTo 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)
Time frame: Through study completion, an average of 2 year
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.
Time frame: Through study completion, an average of 2 year
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