NCT07206095

Integrative Diagnosis for SCD and Other RADs

Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: Hospital Universitari Vall d'Hebron Research Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

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
• Hemoglobin Disorder
• Anemia Due to Membrane Defect
• Rare Anemia Disorders

Interventions

Type	Name	Description
GENETIC	Analysis of genetic modifiers	Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.
DIAGNOSTIC_TEST	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®)

Timeline

• Start date: 2020-11-13
• Primary completion: 2025-05-25
• Completion: 2028-05-01
• First posted: 2025-10-03
• Last updated: 2025-10-03

Locations

9 sites across 1 country: Spain