Generalized Neonatal Screening of Severe Combined Immunodeficiencies
NCT ID: NCT02244450
Last Updated: 2018-07-24
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
190539 participants
INTERVENTIONAL
2014-12-31
2018-04-28
Brief Summary
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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 .
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Detailed Description
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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:
* Number of children with a presumptive positive screening , requiring a call by the referent pediatrician, consultation and exploration of lymphocyte subpopulations
* Number of children with a negative screening
* Number of children with an inconclusive screening (lack of TRECs and lack of amplification of the reference gene) and requiring a new card,
A micro- costing study will be conducted to assess the cost of testing .
This group of 200,000 children is the experimental group to assess the cost of screening , acceptability by parents (participation rate), the recall rate for abnormal or inconclusive result, the rate of follow-up time for results , the incidence of disease . It will also allow to calculate the specificity of the method .
At the end of the inclusions, the vital status at 18 months with cause of death will be sought for the 200 000 children included , with the CESP ( Centre de Recherche en Epidemiologie et Santé des Populations) via RNIPP (Répertoire National d'Identification des Personnes Physiques) and CepiDc ( Centre d'Epidémiologie sur les causes médicales de décès) . This will establish whether there are SCID in this population which were not detected at birth. Furthermore, the investigators include in the study SCID children diagnosed without screening by pediatricians local referents DIP (including Necker main transplant center) . This will enable to approach the sensitivity of the method . All these data allow the calculation of the predictive values of the test.
In this experimental group will be isolated a group of individuals who screened positive and diagnosed as true SCID . Clinical data for these patients will be collected in an electronic CRF ( CRF ) by the pediatrician referral protocol (Dr Thomas C ) , including:
* The dates and results of explorations : lymphocyte subpopulations , blood count, determination of immunoglobulin levels
* The diagnosis made with identification of the genetic defect
* The date of care before curative treatment ( protected area isolation , anti -infective drugs )
* , Bacterial , fungal anti -viral treatments , and other
* The date of transplant, type of transplant or other treatment ... ...
Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
SCREENING
NONE
Study Groups
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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.
SCID screening
Control group
SCID children diagnosed without screening by pediatricians local referents DIP
No interventions assigned to this group
Interventions
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SCID screening
Eligibility Criteria
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Inclusion Criteria
* Control group: Patients diagnosed with SCID without screening at participating centers
Exclusion Criteria
* 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
3 Days
18 Months
ALL
Yes
Sponsors
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Nantes University Hospital
OTHER
Responsible Party
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Principal Investigators
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Caroline THOMAS, MD
Role: PRINCIPAL_INVESTIGATOR
Nantes University Hospital
Marie AUDRAIN, MD
Role: STUDY_DIRECTOR
Nantes University Hospital
Sophie MIRALLIE
Role: PRINCIPAL_INVESTIGATOR
Nantes University Hospital
Locations
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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, , 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
Countries
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References
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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.
Audrain 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.
Other Identifiers
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RC14_0030
Identifier Type: -
Identifier Source: org_study_id
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