Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 190,539
- 试验地点
- 51
- 主要终点
- cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
研究概览
简要总结
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development . Infants with SCID require prompt clinical response to Prevent life -threatening infection and studies show significantly improved survival in babies Diagnosed at birth as a result of previous family history . SCID follows criteria for population -based newborn screening since it is asymptomatic at birth and fatal within the first year of life, the confirmation of the disease is easy, there is a curative treatment , and it is known that early stem cell transplantation improves survival . Quantification of TRECs (T- cell receptor excision circles ) in DNA extracted from Guthrie samples is a sensitive screening test for Specific and SCID .
The investigators propose in this study to perform a neonatal screening of SCID , in a population of 200,000 babies over a period of two years .
The investigators propose to study the clinical utility and cost effectiveness ratio, and SCID screening to demonstrate that could result in a broad benefit to Individuals detected , making screening relatively cost-effective in spite of the low incidence of the disease .
详细描述
The project proposes to study the feasibility and cost-effectiveness ratio ( time management and life expectancy to 10 years) of generalized neonatal screening for SCID children by offering this screening to 200 000 children (100 000 children per year) over the entire territory. Prospective control group consists of children diagnosed with SCID out of 700,000 annual births who do not benefit from screening.
The protocol will be leant against the existing newborn screening , that is to say two more drops of blood are placed on a second Guthrie card when current screening (72 hours of life ) is performed after parents' information and consent. Eleven newborn screening regional associations will be involved with the inclusion of children in about 50 maternity hospitals. The card drawn for the protocol will follow the usual network except that the test for quantifying TRECs will be realized in two laboratories instead of eleven laboratories assigned to RA . Investigative Regional Associations (RAs) represent nearly 600,000 births / year and the amount of 200,000 children will be achieved in two years (duration of inclusion) . All children born in the participating maternity may be included if they meet the inclusion criteria. The result of the screening test for SCID will be available within 21 days after birth, provided that there is no need to request a new sample.
At each of eleven RA is associated a pediatrician referent for immune deficiencies, member of the french reference center (CEREDIH) and who will be responsible to call the parents, offer them a consultation and further exploration if the result of screening is assumed positive.
Analysis of cards from 200,000 children will give the following information:
- Number of children with a presumptive positive screening , requiring a call by the referent pediatrician, consultation and exploration of lymphocyte subpopulations
- Number of children with a negative screening
- Number of children with an inconclusive screening (lack of TRECs and lack of amplification of the reference gene) and requiring a new card,
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 3 Days 至 18 Months（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Screening Group: Newborn on day 3 of birth (premature and non premature)
- •Control group: Patients diagnosed with SCID without screening at participating centers
排除标准
- •Lack of parental consent
- •Children whose parents are adults under guardianship,
- •Children without health insurance, for the screening group:
- •The early exit of the child from the maternity hospital
研究组 & 干预措施
Screened patients
SCID screening: more drops of blood are placed on a second Guthrie card when current screening (72 hours of life ) is performed after parents' information and consent. The card drawn for the protocol will follow the usual network except that the test for quantifying TRECs will be realized to determine the presence of SCID.
干预措施: SCID screening (Biological)
Control group
SCID children diagnosed without screening by pediatricians local referents DIP
结局指标
主要结局
cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
时间窗: 18 months
Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)
次要结局
- number of avoided deaths(18 months)
- number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... )(18 months)
- number of false negative and false positive results(18 months)
- The cost of care during the first 18 months of life per child enjoying an early curative treatment in the first 4 months of life.(18 months)
- Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth(10 years)
- Length of hospitalization of children with SCID in the first 18 months of life(18 months)
- number of detected SCID patients(18 months)