SCREENING EmoCamp_ Analysis of Major Haemoglobinopathies Among Newborns in the Campania Region
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- determination of haemoglobin fractions
研究概览
简要总结
Hereditary haemoglobin defects defined under the term haemoglobinopathies represent the most frequent congenital diseases worldwide.
The proposed observational study is aimed at determining the prevalence of haemoglobinopathies in newborns in the Campania Region. The neonatal screening test will be performed at the birth centers in Campania Region, before the newborn's discharge, at the same time as the sampling for neonatal screening required by law.
The main objective of this study is to evaluate the feasibility and impact of the screening programme performed at the birth centers on the earliness of diagnosis and the annual rate of sickle cell anaemia diagnosis in children. The secondary objective is to evaluate the benefits of early diagnosis of SCD in children as measured by two endpoints:
- Improved disease management and early initiation of conventional therapy with reduction of complications, potentially fatal;
- Difference between costs related to the neonatal screening programme and estimated costs related to conventional screening and treatment resulting from complications that may arise with late diagnosis.
详细描述
In the first years of life, unrecognised and untreated SCD patients have a high risk of mortality caused mainly by infection, splenic sequestration and stroke; the mortality risk is 1.1% per year in the first 10 years, but peaks in the first 3 years.
Screening may be universal or targeted, involving the neonatal population only or different age groups. Early diagnosis of disease and subsequent patient care, with timely initiation of antibiotic prophylaxis, vaccinations and parental education to recognise symptoms or signs of risk, has been shown to be effective in drastically reducing morbidity and mortality.
In Italy, newborns are screened at birth and this occasion therefore appears to be the most suitable time to perform the rapid test for the diagnosis of haemoglobinopathies.
The required amount of sample, taken from the newborn's heel, corresponds to 2 drops of blood. Subsequently, the blood sample will be blotted onto a special card made of bibula paper and absorbed by it.
The card, duly retained by the birth centers, will be sent to the Molecular and Cellular Biology laboratory of the Department of Women, Children and General and Specialist Surgery AOU-- Università degli Studi della Campania 'Luigi Vanvitelli' where the screening test will be performed.
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
- 是
入选标准
- •newborns at higher risk of disease.
排除标准
- 未提供
结局指标
主要结局
determination of haemoglobin fractions
时间窗: Perioperative/Periprocedural
Patients were assessed for the presence of abnormal haemoglobin fractions by means of the HPLC method on a peripheral blood drop
次要结局
未报告次要终点
研究者
Maddalena Casale
Associate Professor in Pediatrics
University of Campania Luigi Vanvitelli