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Recruiting NCT07206095

Integrative Diagnosis for SCD and Other RADs

— Observational Sickle Cell Disease Thalassaemia Congenital Dyserythropoietic Anemia (CDA) Enzyme Disorder; Anemia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Analysis of genetic modifiers, Disease phenotyping.
Who it may be relevant to
Registry conditions: Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA), Enzyme Disorder; Anemia. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Spain
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

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

Overview

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.

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®)

Primary outcome measures

  • 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]
Secondary outcome measures (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]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Spain · 9 centers
  • Hospital de la Santa Creu i Sant Pau — Barcelona
  • Hospital Universitari Vall d'Hebron — Barcelona
  • Hospital Sant Joan de Déu — Esplugues de Llobregat
  • Hospital General de Granollers — Granollers
  • Consorci Sanitari del Maresme - Hospital de Mataró — Mataró
  • Parc Taulí Hospital Universitari — Sabadell
  • Hospital Universitari Mútua de Terrassa — Terrassa
  • Consorci Sanitari de Terrassa — Terrassa
  • … and 1 more center

Identifiers

NCT: NCT07206095 · PR(AMI)543/2020 · Evidence 860436 · Integra-SCD PI20/01454 · GA 101095530 - SYNTHEMA · GA 101017549 - GENOMED4ALL · PR(AMI)427/2021

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗