NCT07206095招募中不适用
Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine
Hospital Universitari Vall d'Hebron Research Institute9 个研究点 分布在 1 个国家目标入组 200 人开始时间: 2020年11月13日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 9
- 主要终点
- To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity
研究概览
简要总结
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.
详细描述
Objectives:
- To assess the prognostic value of LoRRca (ektacytometry) as biomarker providing information of SCD/RADs patients severity
- To investigate the correlation between LoRRca parameters and SCD/RADs patients genetic and phenotypic characterization.
- To identify genetic modifiers of RADs both new and previously described by GWAS as markers for prognosis and clinical course based on genomics approach.
- To establish an innovative algorithm for RADs patients characterization based on the integration of data generated through the analysis of genetic modifiers and the RBCs rheological properties by LoRRca profiles and microfluidics data in combination with RADs patients' clinical manifestations and treatments.
- To model the progression of RADs in a spleen-like filtering unit using microfluidic technologies to develop a novel diagnostic device for prognosis and patients' stratification. This device will be used for the characterization under flow of rheological and mechanical properties of single RBCs.
- To translate the results on a clinical practice recommendation for management of RADs patients endorsed by European Hematology bodies as ERN-EuroBloodNet and/or the European Hematology Association for its wide dissemination.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Carrier traits in autosomal recessive hereditary anemias
结局指标
主要结局
To assess the prognostic value of LoRRca ektacytometry as biomarker providing information of SCD/RADs patients severity
时间窗: Through study completion, an average of 2 year
Severity was assesed as the occurence of: * Vaso-occlusive events (VOEs) in the last 24 months * Kidney injury (defined according to KDIGO guidelines) * Retinopathy (defined as proliferative and non proliferative)
次要结局
- To investigate the correlation between LoRRca ektacytometry parameters and SCD/RADs patients genetic and phenotypic characterization.(Through study completion, an average of 2 year)
研究者
研究点 (9)
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