National Transfusion Treatment Survey in Patients With Sickle Cell Disease (SCD)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Web-based recording of personal, therapy and complications data of patients with sickle cell anemia included in the National Transfusion Treatment Survey
研究概览
简要总结
The "National Transfusion Treatment Survey in patients with sickle cell disease (SCD)" is a prospective longitudinal systemic study that was created in order to evaluate the therapeutic approach, mainly transfusional, in patients affected by SCD throughout Italy and to improve the quality of care and implement research.
The survey will evaluate all patients affected by different forms of sickle cell disease (HbS homozygosis, Thalassoso-drepanocytosis, HbS / HbC compound heterozygosis, other possible genetic compounds).
Patients will be selected according with a SCD diagnosis confirmed by standardized biochemical criteria or by DNA analysis. Patients will be excluded from the study who do not meet the these requirements, who are unable to understand the protocol or able to give informed consent in the absence of any legal representative.
All data will be collected through a standard web-based application, which will be completed by the responsable investigator or by sub-investigators selected by each center, after registration on the site providing personal data and indicating the affiliation structure. All data will be subsequently encrypted by the Central Server. The operator will subsequently be able to access the patient's clinical data to perform the updates, in order to follow the patient's clinical evolution over time. The study will not involve any additional tests compared to the routine of patient control.
详细描述
Sickle Cell Disease (SCD) includes a group of rare inherited monogenic diseases caused by mutations of genes involved in hemoglobin biosynthesis and is characterized by the presence of a hemoglobin variant (HbS); transmission occurs according to mendelian recessive mode.
The term "Sickle Cell Disease" includes several genotypes expressing a similar phenotype, characterized by acute events sustained from the pathophysiological point of view by vasoocclusive and / or acute hemolytic crisis and by chronic hemolytic anemia, mechanisms both conditioning in progressive organ damage time. The most common genotype (70% present in the African continent) consists of homozygosity for both alleles S (Drepanocytosis or Sickle Cell Anemia, SCA - HbSS), followed by compound heterozygosis of a β-thalassemic mutation and an allele S ( Thalasso-sickle cell disease or HbS / βthal), then from βs/ βc (HbS / HbC hemoglobinopathy).
The characteristic clinical manifestations consist of recurrent vaso-occlusive ischemic events and consequent micro infarcts, up to the development of acute and chronic multi-organ insufficiency; the responsible pathophysiological mechanism resides in the polymerization of hemoglobin S.
The main acute, life-threatening events are acute cerebrovascular events (stroke, 11% of patients with SCA within 20 years), acute respiratory failure (Acute Chest Syndrome, ACS) associated with pulmonary hypertension and severe painful osteo-articular and splanchnic crises.
The identification and detection of parameters indicating the progressive deterioration of neurological and cardio-pulmonary function could be decisive in the prevention of both acute events and the progressive worsening of organ damage.
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 suffering of sickle cell disease, with diagnosis confirmed by standardized biochemical criteria or by matching mutations on globin genes by DNA analysis;
- •all patients who consent to the study by signing the informed consent given by the U.O.C.
排除标准
- •patients without a diagnosis confirmed according to standardized biochemical criteria or via mutation on globin genes by DNA analysis.
- •all patients unable to understand the study protocol and to give informed consent and who have no legal representative.
结局指标
主要结局
Web-based recording of personal, therapy and complications data of patients with sickle cell anemia included in the National Transfusion Treatment Survey
时间窗: Data will be recorded up to six months
The Survey Data Sheet is divided into three parts: 1. Personal data 2. Therapy: * Chronic transfusion regimen * Acute transfusion regimen * Hydroxyurea 3. Complications: - * Alloimmunization * Transfusion reactions * Martial structure and iron-chelating therapy
次要结局
未报告次要终点