Integrative Diagnosis for SCD and Other RADs

Recruiting now

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

In brief

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.

Key facts

Study ID

NCT07206095

Run by

Hospital Universitari Vall d'Hebron Research Institute

People needed

200

Starts

2020-11-13

Expected to finish

2028-05-01

Last updated by the study team

2025-10-03

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

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)
• Not transplanted or undergoing gene therapy at the time of inclusion. Patients with graft failure without a new transplant may be included.

You may not qualify if…

• Carrier traits in autosomal recessive hereditary anemias

Where it is running

• Hospital de la Santa Creu i Sant Pau — Barcelona, Barcelona, Spain (enrolling)
• Hospital Universitari Vall d'Hebron — Barcelona, Barcelona, Spain (enrolling)
• Hospital Sant Joan de Déu — Esplugues de Llobregat, Barcelona, Spain (enrolling)
• Hospital General de Granollers — Granollers, Barcelona, Spain (enrolling)
• Consorci Sanitari del Maresme - Hospital de Mataró — Mataró, Barcelona, Spain (enrolling)
• Parc Taulí Hospital Universitari — Sabadell, Barcelona, Spain (enrolling)
• Hospital Universitari Mútua de Terrassa — Terrassa, Barcelona, Spain (enrolling)
• Consorci Sanitari de Terrassa — Terrassa, Barcelona, Spain (enrolling)
• Hospital Universitari Arnau de Vilanova — Lleida, Lleida, Spain (enrolling)

Full record on ClinicalTrials.gov

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