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Integrative Diagnosis for SCD and Other RADs

NCT07206095 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2025-10-03

No results posted yet for this 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.

Conditions

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

Sponsors & Collaborators

  • Hospital Clinic de Barcelona, Barcelona, Spain

    collaborator UNKNOWN

  • Institute for Bioengineering of Catalonia

    collaborator OTHER

  • Hospital Arnau de Vilanova, Lleida (Spain)

    collaborator UNKNOWN

  • Hospital Universitari Vall d'Hebron Research Institute

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-13
Primary Completion
2025-05-25
Completion
2028-05-31

Countries

  • Spain

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07206095 on ClinicalTrials.gov