Clinical Trial: Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional
Official Title: Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs
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 .
Detailed Summary:
The project proposes to study the feasibility and cost-effectiveness ratio ( time management and life expectancy to 10 years) of generalized neonatal screening for SCID children by offering this screening to 200 000 children (100 000 children per year) over the entire territory. Prospective control group consists of children diagnosed with SCID out of 700,000 annual births who do not benefit from screening.
The protocol will be leant against the existing newborn screening , that is to say two 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. Eleven newborn screening regional associations will be involved with the inclusion of children in about 50 maternity hospitals. The card drawn for the protocol will follow the usual network except that the test for quantifying TRECs will be realized in two laboratories instead of eleven laboratories assigned to RA . Investigative Regional Associations (RAs) represent nearly 600,000 births / year and the amount of 200,000 children will be achieved in two years (duration of inclusion) . All children born in the participating maternity may be included if they meet the inclusion criteria. The result of the screening test for SCID will be available within 21 days after birth, provided that there is no need to request a new sample.
At each of eleven RA is associated a pediatrician referent for immune deficiencies, member of the french reference center (CEREDIH) and who will be responsible to call the parents, offer them a consultation and further exploration if the result of screening is assumed positive.
Analysis of cards from 200,000 children will give the following information:
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Sponsor: Nantes University Hospital
- 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
Current Primary Outcome: cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth [ Time Frame: 18 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome: Same as current
Information By: Nantes University Hospital
Dates:
Date Received: September 2, 2014
Date Started: December 2014
Date Completion: July 2018
Last Updated: March 28, 2017
Last Verified: March 2017
