<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02244450</url>
  </required_header>
  <id_info>
    <org_study_id>RC14_0030</org_study_id>
    <nct_id>NCT02244450</nct_id>
  </id_info>
  <brief_title>Generalized Neonatal Screening of Severe Combined Immunodeficiencies</brief_title>
  <acronym>DEPISTREC</acronym>
  <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</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Nantes University Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Nantes University Hospital</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune&#xD;
      system by characterised profound abnormalities of T cell development . Infants with SCID&#xD;
      require prompt clinical response to Prevent life -threatening infection and studies show&#xD;
      significantly improved survival in babies Diagnosed at birth as a result of previous family&#xD;
      history . SCID follows criteria for population -based newborn screening since it is&#xD;
      asymptomatic at birth and fatal within the first year of life, the confirmation of the&#xD;
      disease is easy, there is a curative treatment , and it is known that early stem cell&#xD;
      transplantation improves survival . Quantification of TRECs (T- cell receptor excision&#xD;
      circles ) in DNA extracted from Guthrie samples is a sensitive screening test for Specific&#xD;
      and SCID .&#xD;
&#xD;
      The investigators propose in this study to perform a neonatal screening of SCID , in a&#xD;
      population of 200,000 babies over a period of two years .&#xD;
&#xD;
      The investigators propose to study the clinical utility and cost effectiveness ratio, and&#xD;
      SCID screening to demonstrate that could result in a broad benefit to Individuals detected ,&#xD;
      making screening relatively cost-effective in spite of the low incidence of the disease .&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The project proposes to study the feasibility and cost-effectiveness ratio ( time management&#xD;
      and life expectancy to 10 years) of generalized neonatal screening for SCID children by&#xD;
      offering this screening to 200 000 children (100 000 children per year) over the entire&#xD;
      territory. Prospective control group consists of children diagnosed with SCID out of 700,000&#xD;
      annual births who do not benefit from screening.&#xD;
&#xD;
      The protocol will be leant against the existing newborn screening , that is to say two more&#xD;
      drops of blood are placed on a second Guthrie card when current screening (72 hours of life )&#xD;
      is performed after parents' information and consent. Eleven newborn screening regional&#xD;
      associations will be involved with the inclusion of children in about 50 maternity hospitals.&#xD;
      The card drawn for the protocol will follow the usual network except that the test for&#xD;
      quantifying TRECs will be realized in two laboratories instead of eleven laboratories&#xD;
      assigned to RA . Investigative Regional Associations (RAs) represent nearly 600,000 births /&#xD;
      year and the amount of 200,000 children will be achieved in two years (duration of inclusion)&#xD;
      . All children born in the participating maternity may be included if they meet the inclusion&#xD;
      criteria. The result of the screening test for SCID will be available within 21 days after&#xD;
      birth, provided that there is no need to request a new sample.&#xD;
&#xD;
      At each of eleven RA is associated a pediatrician referent for immune deficiencies, member of&#xD;
      the french reference center (CEREDIH) and who will be responsible to call the parents, offer&#xD;
      them a consultation and further exploration if the result of screening is assumed positive.&#xD;
&#xD;
      Analysis of cards from 200,000 children will give the following information:&#xD;
&#xD;
        -  Number of children with a presumptive positive screening , requiring a call by the&#xD;
           referent pediatrician, consultation and exploration of lymphocyte subpopulations&#xD;
&#xD;
        -  Number of children with a negative screening&#xD;
&#xD;
        -  Number of children with an inconclusive screening (lack of TRECs and lack of&#xD;
           amplification of the reference gene) and requiring a new card,&#xD;
&#xD;
      A micro- costing study will be conducted to assess the cost of testing .&#xD;
&#xD;
      This group of 200,000 children is the experimental group to assess the cost of screening ,&#xD;
      acceptability by parents (participation rate), the recall rate for abnormal or inconclusive&#xD;
      result, the rate of follow-up time for results , the incidence of disease . It will also&#xD;
      allow to calculate the specificity of the method .&#xD;
&#xD;
      At the end of the inclusions, the vital status at 18 months with cause of death will be&#xD;
      sought for the 200 000 children included , with the CESP ( Centre de Recherche en&#xD;
      Epidemiologie et Santé des Populations) via RNIPP (Répertoire National d'Identification des&#xD;
      Personnes Physiques) and CepiDc ( Centre d'Epidémiologie sur les causes médicales de décès) .&#xD;
      This will establish whether there are SCID in this population which were not detected at&#xD;
      birth. Furthermore, the investigators include in the study SCID children diagnosed without&#xD;
      screening by pediatricians local referents DIP (including Necker main transplant center) .&#xD;
      This will enable to approach the sensitivity of the method . All these data allow the&#xD;
      calculation of the predictive values of the test.&#xD;
&#xD;
      In this experimental group will be isolated a group of individuals who screened positive and&#xD;
      diagnosed as true SCID . Clinical data for these patients will be collected in an electronic&#xD;
      CRF ( CRF ) by the pediatrician referral protocol (Dr Thomas C ) , including:&#xD;
&#xD;
        -  The dates and results of explorations : lymphocyte subpopulations , blood count,&#xD;
           determination of immunoglobulin levels&#xD;
&#xD;
        -  The diagnosis made with identification of the genetic defect&#xD;
&#xD;
        -  The date of care before curative treatment ( protected area isolation , anti -infective&#xD;
           drugs )&#xD;
&#xD;
        -  , Bacterial , fungal anti -viral treatments , and other&#xD;
&#xD;
        -  The date of transplant, type of transplant or other treatment ... ...&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">December 2014</start_date>
  <completion_date type="Actual">April 28, 2018</completion_date>
  <primary_completion_date type="Actual">April 28, 2018</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <primary_purpose>Screening</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth</measure>
    <time_frame>18 months</time_frame>
    <description>Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth</measure>
    <time_frame>10 years</time_frame>
    <description>Efficacy endpoint: life expectancy of children modeled from the results of the study and data from the literature</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>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.</measure>
    <time_frame>18 months</time_frame>
    <description>Costs of care will be estimated during the first 18 months of life of the child.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Length of hospitalization of children with SCID in the first 18 months of life</measure>
    <time_frame>18 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>number of avoided deaths</measure>
    <time_frame>18 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>number of detected SCID patients</measure>
    <time_frame>18 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... )</measure>
    <time_frame>18 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>number of false negative and false positive results</measure>
    <time_frame>18 months</time_frame>
    <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</description>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Actual">190539</enrollment>
  <condition>Severe Combined Immunodeficiency, Atypical</condition>
  <arm_group>
    <arm_group_label>Screened patients</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <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.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Control group</arm_group_label>
    <arm_group_type>No Intervention</arm_group_type>
    <description>SCID children diagnosed without screening by pediatricians local referents DIP</description>
  </arm_group>
  <intervention>
    <intervention_type>Biological</intervention_type>
    <intervention_name>SCID screening</intervention_name>
    <arm_group_label>Screened patients</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Screening Group: Newborn on day 3 of birth (premature and non premature)&#xD;
&#xD;
          -  Control group: Patients diagnosed with SCID without screening at participating centers&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Lack of parental consent&#xD;
&#xD;
          -  Children whose parents are adults under guardianship,&#xD;
&#xD;
          -  Children without health insurance, for the screening group:&#xD;
&#xD;
          -  The early exit of the child from the maternity hospital&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>3 Days</minimum_age>
    <maximum_age>18 Months</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Caroline THOMAS, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>CHU Nantes</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Marie AUDRAIN, MD</last_name>
    <role>Study Director</role>
    <affiliation>CHU Nantes</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Sophie MIRALLIE</last_name>
    <role>Principal Investigator</role>
    <affiliation>CHU Nantes</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Angers Private Hospital Clinique de l'Anjou</name>
      <address>
        <city>Angers</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Angers University Hospital</name>
      <address>
        <city>Angers</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Argenteuil Hospital</name>
      <address>
        <city>Argenteuil</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Aulnay-sous-Bois Hospital CHI Robert Ballanger</name>
      <address>
        <city>Aulnay-sous-Bois</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Bordeaux Maison de Santé Protestante Bordeaux Bagatelle</name>
      <address>
        <city>Bordeaux</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Bordeaux Private Hospital Polyclinique Bordeuax Nord Aquitaine</name>
      <address>
        <city>Bordeaux</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Bordeaux University Hospital</name>
      <address>
        <city>Bordeaux</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Corbeil Essonnes Hospital Sud Francilien</name>
      <address>
        <city>Corbeil Essonnes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Créteil Hospital</name>
      <address>
        <city>Créteil</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Dijon University Hospital</name>
      <address>
        <city>Dijon</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Grenoble University Hospital</name>
      <address>
        <city>Grenoble</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Le Blanc Mesnil Private Hospital</name>
      <address>
        <city>Le Blanc Mesnil</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lens Hospital</name>
      <address>
        <city>Lens</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Libourne Maternity Hospital</name>
      <address>
        <city>Libourne</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lille University Hospital</name>
      <address>
        <city>Lille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lormont Maternity Hospital Rive Droite</name>
      <address>
        <city>Lormont</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lyon Maternity Hospital</name>
      <address>
        <city>Lyon</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lyon University Hospital</name>
      <address>
        <city>Lyon</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Marseille Saint-Joseph Hospital</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Marseille University Hospital La Conception</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Marseille University Hospital Nord</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Marseille University Hospital</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Meaux Hospital</name>
      <address>
        <city>Meaux</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Montreuil Hospital CHI André Grégroie</name>
      <address>
        <city>Montreuil</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Nantes University Hospital</name>
      <address>
        <city>Nantes</city>
        <zip>44000</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Nantes Private Hospital Clinique Jules Verne</name>
      <address>
        <city>Nantes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Nantes University Hospital</name>
      <address>
        <city>Nantes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris Hospital Saint-Joseph</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris Necker University Hospital</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Armand-Trousseau</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Bichat</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Bicêtre</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Béclère</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Jean Verdier</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital La Pitié Salpétrière</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Louis Mourier</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Paris University Hospital Necker</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Poissy Hospital CHI Poissy-Saint-Germain</name>
      <address>
        <city>Poissy</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Pontoise Hospital René Dubos</name>
      <address>
        <city>Pontoise</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Rennes Private Hospital Clinique Mutualiste La Sagesse</name>
      <address>
        <city>Rennes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Rennes University Hospital</name>
      <address>
        <city>Rennes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Saint-Grégoire Private Hospital</name>
      <address>
        <city>Rennes</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Roubaix Hospital</name>
      <address>
        <city>Roubaix</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Saint-Herblain Private Hospital Polyclinique de l'Atlantique</name>
      <address>
        <city>Saint-Herblain</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Saint-Mande Army Hospital Begin</name>
      <address>
        <city>Saint-Mande</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Saint-Martin-d'Hère Private Hospital Clinique Belledonne</name>
      <address>
        <city>Saint-Martin d'Hères</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Strasbourg Private Hospital Clinique Adassa</name>
      <address>
        <city>Strasbourg</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Strasbourg University Hospital</name>
      <address>
        <city>Strasbourg</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Toulouse Private Hospital Clinique Sarrus Teinturiers</name>
      <address>
        <city>Toulouse</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Toulouse University Hospital P. DE VIGUIER</name>
      <address>
        <city>Toulouse</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Toulouse University Hospital</name>
      <address>
        <city>Toulouse</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>July 2018</verification_date>
  <study_first_submitted>September 2, 2014</study_first_submitted>
  <study_first_submitted_qc>September 18, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 19, 2014</study_first_posted>
  <last_update_submitted>July 23, 2018</last_update_submitted>
  <last_update_submitted_qc>July 23, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">July 24, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Neonatal screening</keyword>
  <keyword>severe combined immunodeficiency</keyword>
  <keyword>T-cell Receptor Excision Circle</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Severe Combined Immunodeficiency</mesh_term>
    <mesh_term>Immunologic Deficiency Syndromes</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02244450
org study id: RC14_0030
nct id: NCT02244450
lead sponsor: 
has dmc: No
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 .
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 ... ...
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Screening
masking: None (Open Label)
measure: cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
time frame: 18 months
description: Efficacy endpoint: number of children receiving early therapeutic suitable for curative ( transplant, enzyme treatment or gene therapy)
measure: Cost / efficiency ratio of the implementation of the generalized neonatal screening of SCID at birth
time frame: 10 years
description: Efficacy endpoint: life expectancy of children modeled from the results of the study and data from the literature
measure: 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
description: Costs of care will be estimated during the first 18 months of life of the child.
measure: Length of hospitalization of children with SCID in the first 18 months of life
time frame: 18 months
measure: number of avoided deaths
time frame: 18 months
measure: number of detected SCID patients
time frame: 18 months
measure: number of patients detected with other T lymphopenia (SCID variants , DiGeorge , severe T lymphopenia non SCID ... )
time frame: 18 months
measure: number of false negative and false positive results
time frame: 18 months
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
arm group label: Screened patients
arm group type: Experimental
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 group label: Control group
arm group type: No Intervention
description: SCID children diagnosed without screening by pediatricians local referents DIP
intervention type: Biological
intervention name: SCID screening
arm group label: Screened patients
criteria: 
gender: All
minimum age: 3 Days
maximum age: 18 Months
healthy volunteers: Accepts Healthy Volunteers
last name: Caroline THOMAS, MD
role: Principal Investigator
affiliation: CHU Nantes
last name: Marie AUDRAIN, MD
role: Study Director
affiliation: CHU Nantes
last name: Sophie MIRALLIE
role: Principal Investigator
affiliation: CHU Nantes
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country: France
responsible party type: Sponsor
mesh term: Severe Combined Immunodeficiency
mesh term: Immunologic Deficiency Syndromes