Generalized Neonatal Screening of Severe Combined Immunodeficiencies
DEPISTREC
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
1 other identifier
interventional
190,539
1 country
51
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 .
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Dec 2014
Longer than P75 for not_applicable
51 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 2, 2014
CompletedFirst Posted
Study publicly available on registry
September 19, 2014
CompletedStudy Start
First participant enrolled
December 1, 2014
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 28, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
April 28, 2018
CompletedJuly 24, 2018
July 1, 2018
3.4 years
September 2, 2014
July 23, 2018
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)
18 months
Secondary Outcomes (7)
Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
10 years
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.
18 months
Length of hospitalization of children with SCID in the first 18 months of life
18 months
number of avoided deaths
18 months
number of detected SCID patients
18 months
- +2 more secondary outcomes
Study Arms (2)
Screened patients
EXPERIMENTALSCID 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.
Control group
NO INTERVENTIONSCID children diagnosed without screening by pediatricians local referents DIP
Interventions
Eligibility Criteria
You may qualify if:
- Screening Group: Newborn on day 3 of birth (premature and non premature)
- Control group: Patients diagnosed with SCID without screening at participating centers
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (51)
Angers Private Hospital Clinique de l'Anjou
Angers, France
Angers University Hospital
Angers, France
Argenteuil Hospital
Argenteuil, France
Aulnay-sous-Bois Hospital CHI Robert Ballanger
Aulnay-sous-Bois, France
Bordeaux Maison de Santé Protestante Bordeaux Bagatelle
Bordeaux, France
Bordeaux Private Hospital Polyclinique Bordeuax Nord Aquitaine
Bordeaux, France
Bordeaux University Hospital
Bordeaux, France
Corbeil Essonnes Hospital Sud Francilien
Corbeil-Essonnes, France
Créteil Hospital
Créteil, France
Dijon University Hospital
Dijon, France
Grenoble University Hospital
Grenoble, France
Le Blanc Mesnil Private Hospital
Le Blanc-Mesnil, France
Lens Hospital
Lens, France
Libourne Maternity Hospital
Libourne, France
Lille University Hospital
Lille, France
Lormont Maternity Hospital Rive Droite
Lormont, France
Lyon Maternity Hospital
Lyon, France
Lyon University Hospital
Lyon, France
Marseille Saint-Joseph Hospital
Marseille, France
Marseille University Hospital La Conception
Marseille, France
Marseille University Hospital Nord
Marseille, France
Marseille University Hospital
Marseille, France
Meaux Hospital
Meaux, France
Montreuil Hospital CHI André Grégroie
Montreuil, France
Nantes University Hospital
Nantes, 44000, France
Nantes Private Hospital Clinique Jules Verne
Nantes, France
Nantes University Hospital
Nantes, France
Paris Hospital Saint-Joseph
Paris, France
Paris Necker University Hospital
Paris, France
Paris University Hospital Armand-Trousseau
Paris, France
Paris University Hospital Bichat
Paris, France
Paris University Hospital Bicêtre
Paris, France
Paris University Hospital Béclère
Paris, France
Paris University Hospital Jean Verdier
Paris, France
Paris University Hospital La Pitié Salpétrière
Paris, France
Paris University Hospital Louis Mourier
Paris, France
Paris University Hospital Necker
Paris, France
Poissy Hospital CHI Poissy-Saint-Germain
Poissy, France
Pontoise Hospital René Dubos
Pontoise, France
Rennes Private Hospital Clinique Mutualiste La Sagesse
Rennes, France
Rennes University Hospital
Rennes, France
Saint-Grégoire Private Hospital
Rennes, France
Roubaix Hospital
Roubaix, France
Saint-Herblain Private Hospital Polyclinique de l'Atlantique
Saint-Herblain, France
Saint-Mande Army Hospital Begin
Saint-Mandé, France
Saint-Martin-d'Hère Private Hospital Clinique Belledonne
Saint-Martin-d'Hères, France
Strasbourg Private Hospital Clinique Adassa
Strasbourg, France
Strasbourg University Hospital
Strasbourg, France
Toulouse Private Hospital Clinique Sarrus Teinturiers
Toulouse, France
Toulouse University Hospital P. DE VIGUIER
Toulouse, France
Toulouse University Hospital
Toulouse, France
Related Publications (2)
Thomas C, Durand-Zaleski I, Frenkiel J, Mirallie S, Leger A, Cheillan D, Picard C, Mahlaoui N, Riche VP, Roussey M, Sebille V, Rabetrano H, Dert C, Fischer A, Audrain M. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol. 2019 May;202:33-39. doi: 10.1016/j.clim.2019.03.012. Epub 2019 Apr 1.
PMID: 30946917DERIVEDAudrain MAP, Leger AJC, Hemont CAF, Mirallie SM, Cheillan D, Rimbert MGM, Le Thuaut AM, Sebille-Rivain VA, Prat A, Pinel EMQ, Divry E, Dert CGL, Fournier MAG, Thomas CJC. Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study). J Clin Immunol. 2018 Oct;38(7):778-786. doi: 10.1007/s10875-018-0550-7. Epub 2018 Sep 24.
PMID: 30251145DERIVED
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Caroline THOMAS, MD
Nantes University Hospital
- STUDY DIRECTOR
Marie AUDRAIN, MD
Nantes University Hospital
- PRINCIPAL INVESTIGATOR
Sophie MIRALLIE
Nantes University Hospital
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- SCREENING
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 2, 2014
First Posted
September 19, 2014
Study Start
December 1, 2014
Primary Completion
April 28, 2018
Study Completion
April 28, 2018
Last Updated
July 24, 2018
Record last verified: 2018-07