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Integrative Diagnosis for SCD and Other RADs
Sponsor: Hospital Universitari Vall d'Hebron Research Institute
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.
Official title: Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
200
Start Date
2020-11-13
Completion Date
2028-05
Last Updated
2025-10-03
Healthy Volunteers
No
Conditions
Interventions
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®)
Locations (9)
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