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

Inclusion Criteria13

Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:
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 Criteria1

Carrier traits in autosomal recessive hereditary anemias

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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®)