Integrative Diagnosis for SCD and Other RADs

Recruiting

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

• Registration Number: NCT07206095
• Lead Sponsor: Hospital Universitari Vall d'Hebron Research Institute

Brief 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.

Detailed Description

Objectives:

* To assess the prognostic value of LoRRca (ektacytometry) as biomarker providing information of SCD/RADs patients severity

* To investigate the correlation between LoRRca parameters and SCD/RADs patients genetic and phenotypic characterization.

* To identify genetic modifiers of RADs both new and previously described by GWAS as markers for prognosis and clinical course based on genomics approach.

* To establish an innovative algorithm for RADs patients characterization based on the integration of data generated through the analysis of genetic modifiers and the RBCs rheological properties by LoRRca profiles and microfluidics data in combination with RADs patients' clinical manifestations and treatments.

* To model the progression of RADs in a spleen-like filtering unit using microfluidic technologies to develop a novel diagnostic device for prognosis and patients' stratification. This device will be used for the characterization under flow of rheological and mechanical properties of single RBCs.

* To translate the results on a clinical practice recommendation for management of RADs patients endorsed by European Hematology bodies as ERN-EuroBloodNet and/or the European Hematology Association for its wide dissemination.

Study Timeline

• Study Start: 2020-11-13
• Primary Completion: 2025-05-25
• Status Verified: 2025-09
• Study First Submitted: 2025-09-16
• Study First Submitted QC: 2025-09-25
• Last Update Submitted: 2025-09-25
• Study First Posted: 2025-10-03
• Last Update Posted: 2025-10-03
• Study Completion: 2028-05-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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)

Secondary Outcome Measures

Name	Time	Method
To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization.	Through study completion, an average of 2 year	Genomic data will be generated using a targeted next-generation sequencing (tNGS) approach.; Means, medians, standard deviations (SD), ranges and percentages were calculated using SPSS software (version 20, IBM SPSS Statistics, Chicago, IL, USA). Spearman's rank correlation was used to assess associations between variables. For comparing variables with two categories, either a student's t-test or a Mann-Whitney U test was performed, when appropriate. When the variable had more than two categories, an ANOVA or Kruskal Wallis test was used. A p value \<0.05 was considered statistically significant.

Trial Locations

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