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RECRUITINGOBSERVATIONAL

Integrative Diagnosis for SCD and Other RADs

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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. Who Should NOT Join This Trial: - Carrier traits in autosomal recessive hereditary anemias Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: * 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 Criteria: * Carrier traits in autosomal recessive hereditary anemias

Treatments Being Tested

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®)

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