Follow-up of the Cohort of Infants Screened at Birth Using TREC Analysis : DépisTrec - SUIVI
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 450
- 试验地点
- 1
- 主要终点
- Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards
研究概览
简要总结
Since September 2025, neonatal screening for severe combined immunodeficiency (SCID) has been generalized in France. These genetic disorders, which are asymptomatic at birth, cause severe immunodeficiency, exposing infants to serious infections (viral, bacterial, or fungal) as early as the first year of life. Without early treatment and management, infectious complications can be life-threatening.
Studies show that this screening improves survival and quality of life and reduces treatment costs by enabling intervention before complications arise.
In France, the Ministry of Health referred this matter to the Haute Autorité de Santé (HAS), which issued a favorable opinion in January 2022 via a ministerial decree (published on April 16, 2025) regarding the combined screening for DICS and spinal muscular atrophy. These authorizations follow the DEPISTREC study (2015-2017), which demonstrated the effectiveness of this screening: 190,517 children were screened, resulting in a reduction in DICS-related deaths.
The primary objective of the study will be to describe the underlying causes of T-cell lymphopenia identified in newborns through neonatal screening by quantifying TRECs on Guthrie cards. (SCID; variant SCID; syndromic T-cell deficiency; secondary T-cell deficiency; attenuated SCID; Omenn syndrome; immunosuppressive treatment in the mother; not found; isolated prematurity).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist.
排除标准
- •Children whose parents objected to the collection of data after receiving the informational letter
结局指标
主要结局
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards
时间窗: Enrollment
次要结局
- Prevalence of SCID and severe T-cell lymphopenia in the screened population(Enrollment)
- Description of the clinical management of newborns diagnosed with T-cell lymphopenia, whether SCID or non-SCID(Enrollment)
- Describe the time frame for reporting test results(Enrollment)