NCT07206095

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
24mo left

Started Nov 2020

Longer than P75 for all trials

Geographic Reach
1 country

9 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress73%
Nov 2020May 2028

Study Start

First participant enrolled

November 13, 2020

Completed
4.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 25, 2025

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

September 16, 2025

Completed
17 days until next milestone

First Posted

Study publicly available on registry

October 3, 2025

Completed
2.6 years until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2028

Expected
Last Updated

October 3, 2025

Status Verified

September 1, 2025

Enrollment Period

4.5 years

First QC Date

September 16, 2025

Last Update Submit

September 25, 2025

Conditions

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

Keywords

SICKLE CELL DISEASERARE ANEMIA DISORDERSPERSONALIZED MEDICINEDIAGNOSISEKTACYTOMETRY

Outcome Measures

Primary Outcomes (1)

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

    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)

    Through study completion, an average of 2 year

Secondary Outcomes (1)

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

    Through study completion, an average of 2 year

Interventions

Analysis of genetic modifiersGENETIC

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

Disease phenotypingDIAGNOSTIC_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®)

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia.

You may qualify if:

  • 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)

You may not qualify if:

  • Carrier traits in autosomal recessive hereditary anemias

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

Hospital de la Santa Creu i Sant Pau

Barcelona, Barcelona, 08025, Spain

RECRUITING

Hospital Universitari Vall d'Hebron

Barcelona, Barcelona, 08035, Spain

RECRUITING

Hospital Sant Joan de Déu

Esplugues de Llobregat, Barcelona, 08950, Spain

RECRUITING

Hospital General de Granollers

Granollers, Barcelona, 08402, Spain

RECRUITING

Consorci Sanitari del Maresme - Hospital de Mataró

Mataró, Barcelona, 08304, Spain

RECRUITING

Parc Taulí Hospital Universitari

Sabadell, Barcelona, 08208, Spain

RECRUITING

Hospital Universitari Mútua de Terrassa

Terrassa, Barcelona, 08221, Spain

RECRUITING

Consorci Sanitari de Terrassa

Terrassa, Barcelona, 08227, Spain

RECRUITING

Hospital Universitari Arnau de Vilanova

Lleida, Lleida, 25198, Spain

RECRUITING

MeSH Terms

Conditions

Anemia, Sickle CellThalassemiaAnemia, Dyserythropoietic, CongenitalAnemiaSpherocytosis, HereditaryHemoglobinopathiesDisease

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, CongenitalAnemia, HemolyticHematologic DiseasesHemic and Lymphatic DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathologic ProcessesPathological Conditions, Signs and Symptoms

Central Study Contacts

Mar Mañú Pereira PhD

CONTACT

+34 93 489 4063mar.manu@vhir.org

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 16, 2025

First Posted

October 3, 2025

Study Start

November 13, 2020

Primary Completion

May 25, 2025

Study Completion (Estimated)

May 1, 2028

Last Updated

October 3, 2025

Record last verified: 2025-09

Locations

ES(9)