RecruitingNCT07206095

Integrative Diagnosis for SCD and Other RADs

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

Sponsor

Hospital Universitari Vall d'Hebron Research Institute

Enrollment

200 participants

Start Date

Nov 13, 2020

Study Type

OBSERVATIONAL

Conditions

Sickle Cell Disease Thalassaemia Stomatocytosis Congenital Dyserythropoietic Anemia (CDA)Anemia Due to Membrane Defect Enzyme Disorder; Anemia Spherocytosis, Hereditary Hemoglobin Disorder Rare Anemia Disorders

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Analysis of genetic modifiers and Disease phenotyping for people with anemia due to membrane defect, congenital dyserythropoietic anemia (cda), and other related conditions. The study is currently recruiting participants at 9 locations.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICAnalysis of genetic modifiers

Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.

DIAGNOSTIC_TESTDisease 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®)