Integrated diagnosis for sickle cell disease and other rare anemias
Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Hospital Universitari Vall d'Hebron Research Institute Academic / other |
| Locations | 9 sites (Barcelona, Barcelona and 8 other locations) |
| Trial ID | NCT07206095 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Barcelona, Barcelona and 8 other locations
- Hospital de la Santa Creu i Sant Pau — Barcelona, Barcelona, Spain (Recruiting)
- Hospital Universitari Vall d'Hebron — Barcelona, Barcelona, Spain (Recruiting)
- Hospital Sant Joan de Déu — Esplugues de Llobregat, Barcelona, Spain (Recruiting)
- Hospital General de Granollers — Granollers, Barcelona, Spain (Recruiting)
- Consorci Sanitari del Maresme - Hospital de Mataró — Mataró, Barcelona, Spain (Recruiting)
- Parc Taulí Hospital Universitari — Sabadell, Barcelona, Spain (Recruiting)
- Hospital Universitari Mútua de Terrassa — Terrassa, Barcelona, Spain (Recruiting)
- Consorci Sanitari de Terrassa — Terrassa, Barcelona, Spain (Recruiting)
- Hospital Universitari Arnau de Vilanova — Lleida, Lleida, Spain (Recruiting)
Study contacts
- Study coordinator: Mar Mañú Pereira PhD
- Email: mar.manu@vhir.org
- Phone: +34 93 489 4063
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.