Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Data collection.
- Who it may be relevant to
- Registry conditions: Severe Combined Immunodeficiencies (SCID). Basic parameters: up to 5 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Follow-up of the Cohort of Infants Screened at Birth Using TREC Analysis : DépisTrec - SUIVI
Overview
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
- 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.)
Primary outcome measures
- Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards [Time frame: Enrollment]
Secondary outcome measures (3)
- Prevalence of SCID and severe T-cell lymphopenia in the screened population [Time frame: Enrollment]
- Description of the clinical management of newborns diagnosed with T-cell lymphopenia, whether SCID or non-SCID [Time frame: Enrollment]
- Describe the time frame for reporting test results [Time frame: Enrollment]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Nantes university hospital — Nantes
Identifiers
NCT: NCT07704281 · RC26_0010