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
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|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||190539 participants|
|Intervention Model:||Parallel Assignment|
|Masking:||None (Open Label)|
|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|
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
- 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)
- 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
- 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.
- Length of hospitalization of children with SCID in the first 18 months of life [ Time Frame: 18 months ]
- number of avoided deaths [ Time Frame: 18 months ]
- number of detected SCID patients [ Time Frame: 18 months ]
- number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... ) [ Time Frame: 18 months ]
- 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
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
|Principal Investigator:||Caroline THOMAS, MD||CHU Nantes|
|Study Director:||Marie AUDRAIN, MD||CHU Nantes|
|Principal Investigator:||Sophie MIRALLIE||CHU Nantes|