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

NCT07704281 | Not Yet Recruiting

• 1 other identifier: RC26_0010
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 1

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).

Conditions

Severe Combined Immunodeficiencies (SCID)

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards

  Enrollment

Secondary Outcomes (3)

• 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

Study Arms (1)

SCID Children

Our cohort will include all children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period.

Other: Data collection

Interventions

Data collection OTHER

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.)

SCID Children

Eligibility Criteria

• Age: Up to 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The target population consists of all children screened for SCID in France, that is, all children born in metropolitan France and the overseas territories whose parents consent to neonatal screening of their child using the Guthrie test. Within this population, our cohort will include all children with a positive Guthrie card screening result confirmed by lymphocyte immunophenotyping performed during the first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period.

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

Sponsors & Collaborators

• Nantes University Hospital: lead

Study Sites (1)

Nantes university hospital

Nantes, 44093, France

Location

MeSH Terms

Conditions

Severe Combined Immunodeficiency

Interventions

Data Collection

Condition Hierarchy (Ancestors)

Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Intervention Hierarchy (Ancestors)

Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Caroline THOMAS

CONTACT

marie.rimbert@chu-nantes.fr

Marie RIMBERT

CONTACT

marie.rimbert@chu-nantes.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 9, 2026
• First Posted: July 15, 2026
• Study Start (Estimated): November 1, 2026
• Primary Completion (Estimated): August 31, 2035
• Study Completion (Estimated): August 31, 2035
• Last Updated: July 15, 2026

Record last verified: 2026-07

Locations

FR (1)