Integrated diagnosis for sickle cell disease and other rare anemias
Official title: Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
Run by Hospital Universitari Vall d'Hebron Research Institute · NCT07206095 · Data updated 2026-11-12
This project tests whether combining genetic testing, LoRRca ektacytometry, and microfluidic analysis can improve diagnosis and predict disease course for people with sickle cell disease and other inherited anemias.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 350 (estimated) |
| Sponsor | Hospital Universitari Vall d'Hebron Research Institute Academic / other |
| Locations | 4 sites (Barcelona and 3 other locations) |
| Status | Recruiting |
| Started | November 13, 2020 |
| Main results expected | December 2028 |
| Study ends | May 2031 |
| Registry record updated | November 10, 2026 |
| Trial ID | NCT07206095 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People with confirmed or suspected hereditary hemolytic anemias—including sickle cell disease, thalassemia, congenital dyserythropoietic anemia, enzymopathies, or hereditary spherocytosis—who are not currently transplanted or receiving gene therapy are ideal candidates.
✕Probably not a fit
Carriers of autosomal recessive traits, individuals already cured by transplant or active gene therapy, or patients with non‑hereditary causes of anemia are unlikely to benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational project combines deep clinical phenotyping, genomic analysis, LoRRca ektacytometry, and microfluidic single‑cell modeling to develop an integrated diagnostic algorithm for sickle cell disease and other rare hereditary anemias. Researchers will correlate ektacytometry and microfluidic rheology parameters with genetic modifiers and patients' clinical features to identify biomarkers of severity and prognosis. GWAS and targeted genomics will be used to find known and novel genetic modifiers and to inform the integrative algorithm. The team aims to translate the algorithm and microfluidic device findings into clinical practice recommendations endorsed by European hematology bodies.
Why it matters
Potential benefit: If successful, the approach could provide more precise diagnoses and better prediction of disease severity, allowing more personalized monitoring and treatment.
How similar studies have gone: Ektacytometry and genomic studies have shown promise in characterizing red cell disorders, but integrating LoRRca profiles with microfluidic single‑cell models and GWAS into a single clinical algorithm is a novel and relatively untested approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia: Sickle cell disease (SCD) Thalassaemia syndromes Congenital dyserythropoietic anaemia (CDA) Enzymopathies Unstable haemoglobin / altered oxygen affinity Hereditary stomatocytosis Hereditary pyropoikilocytosis Hereditary spherocytosis (HS), either severe (baseline Hb \<10 g/dL or transfusion-dependent) or with an inconclusive diagnosis: Patient with chronic haemolytic anaemia and a compatible red cell smear, but with: EMA binding test: inconclusive or negative Genetic testing: no definitive diagnosis (VUS or no findings) Exclusion Criteria: * Carrier traits in autosomal recessive hereditary anemias
Where it's running
-
Hospital de la Santa Creu i Sant Pau
Barcelona, Spain Recruiting -
Hospital Universitari Vall d'Hebron
Barcelona, Spain Recruiting -
Hospital Sant Joan de Déu
Esplugues de Llobregat, Spain Recruiting -
Hospital General Universitari Gregorio Marañón
Madrid, Spain Recruiting
Study contacts
- Principal investigator: Mar Mañú Pereira, PhD — Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR)
- Study coordinator: Mar Mañú Pereira PhD
- Email: mar.manu@vhir.org
- Phone: +34 93 489 4063
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.