Integrative Diagnosis for SCD and Other RADs

RecruitingOBSERVATIONAL
Enrollment

200

Participants

Timeline

Start Date

November 13, 2020

Primary Completion Date

May 25, 2025

Study Completion Date

May 31, 2028

Conditions
Sickle Cell DiseaseThalassaemiaCongenital Dyserythropoietic Anemia (CDA)Enzyme Disorder; AnemiaSpherocytosis, HereditaryStomatocytosisHemoglobin DisorderAnemia Due to Membrane DefectRare Anemia Disorders
Interventions
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®)

Trial Locations (9)

25198

RECRUITING

Hospital Universitari Arnau de Vilanova, Lleida

08025

RECRUITING

Hospital de la Santa Creu i Sant Pau, Barcelona

08035

RECRUITING

Hospital Universitari Vall d'Hebron, Barcelona

08950

RECRUITING

Hospital Sant Joan de Déu, Esplugues de Llobregat

08402

RECRUITING

Hospital General de Granollers, Granollers

08304

RECRUITING

Consorci Sanitari del Maresme - Hospital de Mataró, Mataró

08208

RECRUITING

Parc Taulí Hospital Universitari, Sabadell

08221

RECRUITING

Hospital Universitari Mútua de Terrassa, Terrassa

08227

RECRUITING

Consorci Sanitari de Terrassa, Terrassa

All Listed Sponsors
collaborator

Hospital Clinic de Barcelona, Barcelona, Spain

UNKNOWN

collaborator

Institute for Bioengineering of Catalonia

OTHER

collaborator

Hospital Arnau de Vilanova, Lleida (Spain)

UNKNOWN

lead

Hospital Universitari Vall d'Hebron Research Institute

OTHER