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

9. juli 2026 opdateret af: Nantes University Hospital

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

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).

Studieoversigt

Status

Ikke rekrutterer endnu

Betingelser

Intervention / Behandling

Undersøgelsestype

Observationel

Tilmelding (Anslået)

450

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

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.

Beskrivelse

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

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

Gruppe / kohorte
Intervention / Behandling
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.
Andet: 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.)

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Tidsramme
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards
Tidsramme: Enrollment
Enrollment

Sekundære resultatmål

Resultatmål
Tidsramme
Prevalence of SCID and severe T-cell lymphopenia in the screened population
Tidsramme: Enrollment
Enrollment
Description of the clinical management of newborns diagnosed with T-cell lymphopenia, whether SCID or non-SCID
Tidsramme: Enrollment
Enrollment
Describe the time frame for reporting test results
Tidsramme: Enrollment
Enrollment

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Nantes University Hospital

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Anslået)

1. november 2026

Primær færdiggørelse (Anslået)

31. august 2035

Studieafslutning (Anslået)

31. august 2035

Datoer for studieregistrering

Først indsendt

9. juli 2026

Først indsendt, der opfyldte QC-kriterier

9. juli 2026

Først opslået (Faktiske)

15. juli 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

15. juli 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

9. juli 2026

Sidst verificeret

1. juli 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • RC26_0010

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

UBESLUTET

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ingen

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .

Kliniske forsøg med Data collection

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Sponsorer og samarbejdspartnere

Medicinske tilstande

Narkotikainterventioner

CROs by country

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Betingelser

Sjældne sygdomme

Narkotikainterventioner

Kosttilskud

Sponsor / samarbejdspartnere

Placeringer

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