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

Follow-up of the Cohort of Infants Screened at Birth Using TREC Analysis : DépisTrec - SUIVI

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07704281

Acronym

DépisTrec

Enrollment

450

Registered

2026-07-15

Start date

2026-11-01

Completion date

2035-08-31

Last updated

2026-07-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Severe Combined Immunodeficiencies (SCID)

Keywords

Severe combined immunodeficiencies (SCID), neonatal screening, T-cell lymphopenia, Guthrie test

Brief 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).

Interventions

OTHERData 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.)

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 5 Years

Healthy volunteers

Inclusion criteria

* Children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist.

Exclusion criteria

* Children whose parents objected to the collection of data after receiving the informational letter

Design outcomes

Primary

Measure	Time frame
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards	Enrollment

Secondary

Measure	Time frame
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

Countries

France

Contacts

CONTACTCaroline THOMAS

marie.rimbert@chu-nantes.fr

CONTACTMarie RIMBERT