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Generalized Neonatal Screening of Severe Combined Immunodeficiencies (DEPISTREC)

Primary Purpose

Severe Combined Immunodeficiency, Atypical

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
SCID screening
Sponsored by
Nantes University Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Severe Combined Immunodeficiency, Atypical focused on measuring Neonatal screening, severe combined immunodeficiency, T-cell Receptor Excision Circle

Eligibility Criteria

3 Days - 18 Months (Child)All SexesAccepts Healthy Volunteers

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

Sites / Locations

  • Angers Private Hospital Clinique de l'Anjou
  • Angers University Hospital
  • Argenteuil Hospital
  • Aulnay-sous-Bois Hospital CHI Robert Ballanger
  • Bordeaux Maison de Santé Protestante Bordeaux Bagatelle
  • Bordeaux Private Hospital Polyclinique Bordeuax Nord Aquitaine
  • Bordeaux University Hospital
  • Corbeil Essonnes Hospital Sud Francilien
  • Créteil Hospital
  • Dijon University Hospital
  • Grenoble University Hospital
  • Le Blanc Mesnil Private Hospital
  • Lens Hospital
  • Libourne Maternity Hospital
  • Lille University Hospital
  • Lormont Maternity Hospital Rive Droite
  • Lyon Maternity Hospital
  • Lyon University Hospital
  • Marseille Saint-Joseph Hospital
  • Marseille University Hospital La Conception
  • Marseille University Hospital Nord
  • Marseille University Hospital
  • Meaux Hospital
  • Montreuil Hospital CHI André Grégroie
  • Nantes University Hospital
  • Nantes Private Hospital Clinique Jules Verne
  • Nantes University Hospital
  • Paris Hospital Saint-Joseph
  • Paris Necker University Hospital
  • Paris University Hospital Armand-Trousseau
  • Paris University Hospital Bichat
  • Paris University Hospital Bicêtre
  • Paris University Hospital Béclère
  • Paris University Hospital Jean Verdier
  • Paris University Hospital La Pitié Salpétrière
  • Paris University Hospital Louis Mourier
  • Paris University Hospital Necker
  • Poissy Hospital CHI Poissy-Saint-Germain
  • Pontoise Hospital René Dubos
  • Rennes Private Hospital Clinique Mutualiste La Sagesse
  • Rennes University Hospital
  • Saint-Grégoire Private Hospital
  • Roubaix Hospital
  • Saint-Herblain Private Hospital Polyclinique de l'Atlantique
  • Saint-Mande Army Hospital Begin
  • Saint-Martin-d'Hère Private Hospital Clinique Belledonne
  • Strasbourg Private Hospital Clinique Adassa
  • Strasbourg University Hospital
  • Toulouse Private Hospital Clinique Sarrus Teinturiers
  • Toulouse University Hospital P. DE VIGUIER
  • Toulouse University Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

No Intervention

Arm Label

Screened patients

Control group

Arm Description

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 children diagnosed without screening by pediatricians local referents DIP

Outcomes

Primary Outcome Measures

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)

Secondary Outcome Measures

Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
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.
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
number of avoided deaths
number of detected SCID patients
number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... )
number of false negative and false positive results
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

Full Information

First Posted
September 2, 2014
Last Updated
July 23, 2018
Sponsor
Nantes University Hospital
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1. Study Identification

Unique Protocol Identification Number
NCT02244450
Brief Title
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Acronym
DEPISTREC
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
Study Type
Interventional

2. Study Status

Record Verification Date
July 2018
Overall Recruitment Status
Completed
Study Start Date
December 2014 (Actual)
Primary Completion Date
April 28, 2018 (Actual)
Study Completion Date
April 28, 2018 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Nantes University Hospital

4. Oversight

Data Monitoring Committee
No

5. Study Description

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 Description
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: 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 ... ...

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Severe Combined Immunodeficiency, Atypical
Keywords
Neonatal screening, severe combined immunodeficiency, T-cell Receptor Excision Circle

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
190539 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Screened patients
Arm Type
Experimental
Arm Description
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.
Arm Title
Control group
Arm Type
No Intervention
Arm Description
SCID children diagnosed without screening by pediatricians local referents DIP
Intervention Type
Biological
Intervention Name(s)
SCID screening
Primary Outcome Measure Information:
Title
cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
Description
Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)
Time Frame
18 months
Secondary Outcome Measure Information:
Title
Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
Description
Efficacy endpoint: life expectancy of children modeled from the results of the study and data from the literature
Time Frame
10 years
Title
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.
Description
Costs of care will be estimated during the first 18 months of life of the child.
Time Frame
18 months
Title
Length of hospitalization of children with SCID in the first 18 months of life
Time Frame
18 months
Title
number of avoided deaths
Time Frame
18 months
Title
number of detected SCID patients
Time Frame
18 months
Title
number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... )
Time Frame
18 months
Title
number of false negative and false positive results
Description
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
Time Frame
18 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
3 Days
Maximum Age & Unit of Time
18 Months
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Caroline THOMAS, MD
Organizational Affiliation
Nantes University Hospital
Official's Role
Principal Investigator
First Name & Middle Initial & Last Name & Degree
Marie AUDRAIN, MD
Organizational Affiliation
Nantes University Hospital
Official's Role
Study Director
First Name & Middle Initial & Last Name & Degree
Sophie MIRALLIE
Organizational Affiliation
Nantes University Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Angers Private Hospital Clinique de l'Anjou
City
Angers
Country
France
Facility Name
Angers University Hospital
City
Angers
Country
France
Facility Name
Argenteuil Hospital
City
Argenteuil
Country
France
Facility Name
Aulnay-sous-Bois Hospital CHI Robert Ballanger
City
Aulnay-sous-Bois
Country
France
Facility Name
Bordeaux Maison de Santé Protestante Bordeaux Bagatelle
City
Bordeaux
Country
France
Facility Name
Bordeaux Private Hospital Polyclinique Bordeuax Nord Aquitaine
City
Bordeaux
Country
France
Facility Name
Bordeaux University Hospital
City
Bordeaux
Country
France
Facility Name
Corbeil Essonnes Hospital Sud Francilien
City
Corbeil Essonnes
Country
France
Facility Name
Créteil Hospital
City
Créteil
Country
France
Facility Name
Dijon University Hospital
City
Dijon
Country
France
Facility Name
Grenoble University Hospital
City
Grenoble
Country
France
Facility Name
Le Blanc Mesnil Private Hospital
City
Le Blanc Mesnil
Country
France
Facility Name
Lens Hospital
City
Lens
Country
France
Facility Name
Libourne Maternity Hospital
City
Libourne
Country
France
Facility Name
Lille University Hospital
City
Lille
Country
France
Facility Name
Lormont Maternity Hospital Rive Droite
City
Lormont
Country
France
Facility Name
Lyon Maternity Hospital
City
Lyon
Country
France
Facility Name
Lyon University Hospital
City
Lyon
Country
France
Facility Name
Marseille Saint-Joseph Hospital
City
Marseille
Country
France
Facility Name
Marseille University Hospital La Conception
City
Marseille
Country
France
Facility Name
Marseille University Hospital Nord
City
Marseille
Country
France
Facility Name
Marseille University Hospital
City
Marseille
Country
France
Facility Name
Meaux Hospital
City
Meaux
Country
France
Facility Name
Montreuil Hospital CHI André Grégroie
City
Montreuil
Country
France
Facility Name
Nantes University Hospital
City
Nantes
ZIP/Postal Code
44000
Country
France
Facility Name
Nantes Private Hospital Clinique Jules Verne
City
Nantes
Country
France
Facility Name
Nantes University Hospital
City
Nantes
Country
France
Facility Name
Paris Hospital Saint-Joseph
City
Paris
Country
France
Facility Name
Paris Necker University Hospital
City
Paris
Country
France
Facility Name
Paris University Hospital Armand-Trousseau
City
Paris
Country
France
Facility Name
Paris University Hospital Bichat
City
Paris
Country
France
Facility Name
Paris University Hospital Bicêtre
City
Paris
Country
France
Facility Name
Paris University Hospital Béclère
City
Paris
Country
France
Facility Name
Paris University Hospital Jean Verdier
City
Paris
Country
France
Facility Name
Paris University Hospital La Pitié Salpétrière
City
Paris
Country
France
Facility Name
Paris University Hospital Louis Mourier
City
Paris
Country
France
Facility Name
Paris University Hospital Necker
City
Paris
Country
France
Facility Name
Poissy Hospital CHI Poissy-Saint-Germain
City
Poissy
Country
France
Facility Name
Pontoise Hospital René Dubos
City
Pontoise
Country
France
Facility Name
Rennes Private Hospital Clinique Mutualiste La Sagesse
City
Rennes
Country
France
Facility Name
Rennes University Hospital
City
Rennes
Country
France
Facility Name
Saint-Grégoire Private Hospital
City
Rennes
Country
France
Facility Name
Roubaix Hospital
City
Roubaix
Country
France
Facility Name
Saint-Herblain Private Hospital Polyclinique de l'Atlantique
City
Saint-Herblain
Country
France
Facility Name
Saint-Mande Army Hospital Begin
City
Saint-Mande
Country
France
Facility Name
Saint-Martin-d'Hère Private Hospital Clinique Belledonne
City
Saint-Martin d'Hères
Country
France
Facility Name
Strasbourg Private Hospital Clinique Adassa
City
Strasbourg
Country
France
Facility Name
Strasbourg University Hospital
City
Strasbourg
Country
France
Facility Name
Toulouse Private Hospital Clinique Sarrus Teinturiers
City
Toulouse
Country
France
Facility Name
Toulouse University Hospital P. DE VIGUIER
City
Toulouse
Country
France
Facility Name
Toulouse University Hospital
City
Toulouse
Country
France

12. IPD Sharing Statement

Citations:
PubMed Identifier
30946917
Citation
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.
Results Reference
derived
PubMed Identifier
30251145
Citation
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.
Results Reference
derived

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Generalized Neonatal Screening of Severe Combined Immunodeficiencies

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