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NCT Number: NCT07206095

Integrative Diagnosis for SCD and Other RADs

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.

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Key information

Conditions

Sickle Cell Disease Anemia Anemia Due to Membrane Defect Anemia, Dyserythropoietic, Congenital Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Sickle Cell Congenital Dyserythropoietic Anemia (CDA) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Enzyme Disorder; Anemia Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobin Disorder Hemoglobinopathies Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Anemia Disorders Spherocytosis, Hereditary Stomatocytosis Thalassaemia Thalassemia

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Universitari Vall d'Hebron, Barcelona, Spain

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Analysis of genetic modifiers

Genetic

Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing.

Disease phenotyping

Diagnostic Test

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®)

Primary outcomes

  1. To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity

    Time frame: 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 outcomes

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

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Mar Mañú Pereira PhD

CONTACT

[email protected]

+34 93 489 4063

Sponsors and collaborators

Lead sponsor

Hospital Universitari Vall d'Hebron Research Institute

Other

Collaborators

  • Hospital Arnau de Vilanova, Lleida (Spain)
  • Hospital Clinic of Barcelona
  • Institute for Bioengineering of Catalonia

Registry information

Official study title

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

Acronym: INTEGRA

Important dates

Study start
2020
Primary completion
2025
Study completion
2028
First posted
Oct 3, 2025
Registry last updated
Oct 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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