Integrative Diagnosis for SCD and Other RADs
Recruiting · NCT07206095 · Observational (researchers observe without assigning treatment) · Lead sponsor: Hospital Universitari Vall d'Hebron Research Institute
View the official record on ClinicalTrials.gov →Interventions studied
Analysis of genetic modifiersDisease phenotyping
What this trial is about
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.
Who can take part
Age range
No age limits stated
Sex
All (male and female)
Healthy volunteers
No - a diagnosis or condition is required
Phase
Not specified
Study type
Observational (researchers observe without assigning treatment)
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 it is running
9 locations listed.
- Hospital de la Santa Creu i Sant Pau - Barcelona, Barcelona, Spain
- Hospital Universitari Vall d'Hebron - Barcelona, Barcelona, Spain
- Hospital Sant Joan de Déu - Esplugues de Llobregat, Barcelona, Spain
- Hospital General de Granollers - Granollers, Barcelona, Spain
- Consorci Sanitari del Maresme - Hospital de Mataró - Mataró, Barcelona, Spain
- Parc Taulí Hospital Universitari - Sabadell, Barcelona, Spain
- Hospital Universitari Mútua de Terrassa - Terrassa, Barcelona, Spain
- Consorci Sanitari de Terrassa - Terrassa, Barcelona, Spain
- Hospital Universitari Arnau de Vilanova - Lleida, Lleida, Spain