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Generalized Neonatal Screening of Severe Combined Immunodeficiencies

NCT02244450 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 190539

Last updated 2018-07-24

No results posted yet for this study

Summary

Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development . Infants with SCID require prompt clinical response to Prevent life -threatening infection and studies show significantly improved survival in babies Diagnosed at birth as a result of previous family history . SCID follows criteria for population -based newborn screening since it is asymptomatic at birth and fatal within the first year of life, the confirmation of the disease is easy, there is a curative treatment , and it is known that early stem cell transplantation improves survival . Quantification of TRECs (T- cell receptor excision circles ) in DNA extracted from Guthrie samples is a sensitive screening test for Specific and SCID .

The investigators propose in this study to perform a neonatal screening of SCID , in a population of 200,000 babies over a period of two years .

The investigators propose to study the clinical utility and cost effectiveness ratio, and SCID screening to demonstrate that could result in a broad benefit to Individuals detected , making screening relatively cost-effective in spite of the low incidence of the disease .

Conditions

  • Severe Combined Immunodeficiency, Atypical

Interventions

BIOLOGICAL

SCID screening

Sponsors & Collaborators

  • Nantes University Hospital

    lead OTHER

Principal Investigators

  • Caroline THOMAS, MD · Nantes University Hospital

  • Marie AUDRAIN, MD · Nantes University Hospital

  • Sophie MIRALLIE · Nantes University Hospital

Study Design

Allocation
NON_RANDOMIZED
Purpose
SCREENING
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
3 Days
Max Age
18 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-12-31
Primary Completion
2018-04-28
Completion
2018-04-28

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 NCT02244450 on ClinicalTrials.gov