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| ID | Type | Description | Link |
|---|---|---|---|
| Evidence 860436 | Other Grant/Funding Number | EC-H2020-MSCA-ITN-2019 | |
| Integra-SCD PI20/01454 | Other Grant/Funding Number | Instituto de Salud Carlos III (ISCIII) | |
| GA 101095530 - SYNTHEMA | Other Grant/Funding Number | HORIZON-HLTH-2022-IND-13-02 | |
| GA 101017549 - GENOMED4ALL | Other Grant/Funding Number | H2020-SC1-FA-DTS-2020-1 | |
| PR(AMI)427/2021 | Other Grant/Funding Number | RADeep (Rare Anaemia Disorders European Epidemiological Platform) |
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| Name | Class |
|---|---|
| Hospital Clinic of Barcelona | OTHER |
| Institute for Bioengineering of Catalonia | OTHER |
| Hospital Arnau de Vilanova, Lleida (Spain) | UNKNOWN |
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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.
Objectives:
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Analysis of genetic modifiers | Genetic | Genetic modifiers for rare anemia disorders will be analyzed through massive sequencing. | ||
| Disease phenotyping | Diagnostic 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®) |
| Measure | Description | Time Frame |
|---|---|---|
| To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity | Severity was assesed as the occurence of:
| Through study completion, an average of 2 year |
| Measure | Description | Time Frame |
|---|---|---|
| To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization. | Genomic data will be generated using a targeted next-generation sequencing (tNGS) approach. Means, medians, standard deviations (SD), ranges and percentages were calculated using SPSS software (version 20, IBM SPSS Statistics, Chicago, IL, USA). Spearman's rank correlation was used to assess associations between variables. For comparing variables with two categories, either a student's t-test or a Mann-Whitney U test was performed, when appropriate. When the variable had more than two categories, an ANOVA or Kruskal Wallis test was used. A p value <0.05 was considered statistically significant. |
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Inclusion Criteria:
Exclusion Criteria:
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Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mar Mañú Pereira PhD | Contact | +34 93 489 4063 | mar.manu@vhir.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital de la Santa Creu i Sant Pau | Recruiting | Barcelona | Barcelona | 08025 | Spain |
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| Through study completion, an average of 2 year |
| Hospital Universitari Vall d'Hebron | Recruiting | Barcelona | Barcelona | 08035 | Spain |
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| Hospital Sant Joan de Déu | Recruiting | Esplugues de Llobregat | Barcelona | 08950 | Spain |
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| Hospital General de Granollers | Recruiting | Granollers | Barcelona | 08402 | Spain |
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| Consorci Sanitari del Maresme - Hospital de Mataró | Recruiting | Mataró | Barcelona | 08304 | Spain |
| Parc Taulí Hospital Universitari | Recruiting | Sabadell | Barcelona | 08208 | Spain |
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| Hospital Universitari Mútua de Terrassa | Recruiting | Terrassa | Barcelona | 08221 | Spain |
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| Consorci Sanitari de Terrassa | Recruiting | Terrassa | Barcelona | 08227 | Spain |
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| Hospital Universitari Arnau de Vilanova | Recruiting | Lleida | Lleida | 25198 | Spain |
| ID | Term |
|---|---|
| D000755 | Anemia, Sickle Cell |
| D013789 | Thalassemia |
| D000742 | Anemia, Dyserythropoietic, Congenital |
| D000740 | Anemia |
| D013103 | Spherocytosis, Hereditary |
| D006453 | Hemoglobinopathies |
| D004194 | Disease |
| ID | Term |
|---|---|
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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