Integrative Diagnosis for SCD and Other RADs

NCT07206095 · tracked via the Priya Life Science Spain tracker

Sponsor

Hospital Universitari Vall d'Hebron Research Institute

Phase

Observational

Started

2020-11-13

Last updated

2025-10-03

Condition(s) studied

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

Investigational drug(s) / intervention(s)

Analysis of genetic modifiersDisease phenotyping

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®)

Study 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

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

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

Primary outcome measure(s)

To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity — Through study completion, an average of 2 year
Severity was assesed as the occurence of: * Vaso-occlusive events (VOEs) in the last 24 months * Kidney injury (defined according to KDIGO guidelines) * Retinopathy (defined as proliferative and non proliferative)

Trial sites (9)

Facility	City	Region	Status
Hospital de la Santa Creu i Sant Pau	Barcelona	Barcelona	Recruiting
Hospital Universitari Vall d'Hebron	Barcelona	Barcelona	Recruiting
Hospital Sant Joan de Déu	Esplugues de Llobregat	Barcelona	Recruiting
Hospital General de Granollers	Granollers	Barcelona	Recruiting
Consorci Sanitari del Maresme - Hospital de Mataró	Mataró	Barcelona	Recruiting
Parc Taulí Hospital Universitari	Sabadell	Barcelona	Recruiting
Hospital Universitari Mútua de Terrassa	Terrassa	Barcelona	Recruiting
Consorci Sanitari de Terrassa	Terrassa	Barcelona	Recruiting
Hospital Universitari Arnau de Vilanova	Lleida	Lleida	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07206095 on ClinicalTrials.gov ↗ ← All trials in Spain