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Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis

NCT07704281 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 450

Last updated 2026-07-15

No results posted yet for this study

Summary

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).

Conditions

  • Severe Combined Immunodeficiencies (SCID)

Interventions

OTHER

Data collection

The categories of data processed in the study database will be: * Clinical data * Laboratory data * Data related to newborn screening * Genetic data (only the results of genetic testing) * Care-related data (referral center, dates of tests, etc.)

Sponsors & Collaborators

  • Nantes University Hospital

    lead OTHER

Eligibility

Max Age
5 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-11-01
Primary Completion
2035-08-31
Completion
2035-08-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07704281 on ClinicalTrials.gov