Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
Starting soon
Conditions studied: Severe Combined Immunodeficiencies (SCID)
In brief
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).
Key facts
- Study ID
- NCT07704281
- Run by
- Nantes University Hospital
- People needed
- 450
- Starts
- 2026-11-01
- Expected to finish
- 2035-08-31
- Last updated by the study team
- 2026-07-15
Who can join
Age: any, up to 5. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist.
You may not qualify if…
- Children whose parents objected to the collection of data after receiving the informational letter
Where it is running
- Nantes university hospital — Nantes, France
Full record on ClinicalTrials.gov
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