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Generalized Neonatal Screening of Severe Combined Immunodeficiencies (DEPISTREC)

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ClinicalTrials.gov Identifier: NCT02244450
Recruitment Status : Completed
First Posted : September 19, 2014
Last Update Posted : July 24, 2018
Sponsor:
Information provided by (Responsible Party):
Nantes University Hospital

Brief 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 .


Condition or disease Intervention/treatment Phase
Severe Combined Immunodeficiency, Atypical Biological: SCID screening Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 190539 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards
Actual Study Start Date : December 2014
Actual Primary Completion Date : April 28, 2018
Actual Study Completion Date : April 28, 2018


Arm Intervention/treatment
Experimental: Screened patients
SCID screening: more drops of blood are placed on a second Guthrie card when current screening (72 hours of life ) is performed after parents' information and consent. The card drawn for the protocol will follow the usual network except that the test for quantifying TRECs will be realized to determine the presence of SCID.
Biological: SCID screening
No Intervention: Control group
SCID children diagnosed without screening by pediatricians local referents DIP



Primary Outcome Measures :
  1. cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth [ Time Frame: 18 months ]
    Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)


Secondary Outcome Measures :
  1. Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth [ Time Frame: 10 years ]
    Efficacy endpoint: life expectancy of children modeled from the results of the study and data from the literature

  2. The cost of care during the first 18 months of life per child enjoying an early curative treatment in the first 4 months of life. [ Time Frame: 18 months ]
    Costs of care will be estimated during the first 18 months of life of the child.

  3. Length of hospitalization of children with SCID in the first 18 months of life [ Time Frame: 18 months ]
  4. number of avoided deaths [ Time Frame: 18 months ]
  5. number of detected SCID patients [ Time Frame: 18 months ]
  6. number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... ) [ Time Frame: 18 months ]
  7. number of false negative and false positive results [ Time Frame: 18 months ]
    False negative results : patients from the control group diagnosed with SCID without screening who would have a negative screening or patients from the screening group died from a SCID and with a negative screening False positive: patients from the screening group with a positive screening but without SCID



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Ages Eligible for Study:   up to 18 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Screening Group: Newborn on day 3 of birth (premature and non premature)
  • Control group: Patients diagnosed with SCID without screening at participating centers

Exclusion Criteria:

  • Lack of parental consent
  • Children whose parents are adults under guardianship,
  • Children without health insurance, for the screening group:
  • The early exit of the child from the maternity hospital

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02244450


  Show 51 Study Locations
Sponsors and Collaborators
Nantes University Hospital
Investigators
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Principal Investigator: Caroline THOMAS, MD CHU Nantes
Study Director: Marie AUDRAIN, MD CHU Nantes
Principal Investigator: Sophie MIRALLIE CHU Nantes

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02244450     History of Changes
Other Study ID Numbers: RC14_0030
First Posted: September 19, 2014    Key Record Dates
Last Update Posted: July 24, 2018
Last Verified: July 2018

Keywords provided by Nantes University Hospital:
Neonatal screening
severe combined immunodeficiency
T-cell Receptor Excision Circle

Additional relevant MeSH terms:
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Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases