<?xml version="1.0" encoding="UTF-8"?>
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<docDscr>
  <citation>
    <titlStmt>
      <titl>Cohort of Children with Alpha 1 Antitrypsin Deficiency.</titl>
      <IDNo>FRESH-PEF60120-en</IDNo>
    </titlStmt>
    <prodStmt>
      <producer abbr="" affiliation="HOSPICES CIVILS DE LYON (HCL)" role="">Alain LACHAUX</producer>
    </prodStmt>
    <verStmt>
      <version></version>
    </verStmt>
  </citation>
</docDscr>
<stdyDscr>
  <citation>
    <titlStmt>
      <titl>
                Cohort of Children with Alpha 1 Antitrypsin Deficiency.            </titl>
      <altTitl>
                    DEFI-ALPHA                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF60120-en            </IDNo>
      <IDNo agency="PEF">
                    60120                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF60120                </IDNo>
    </titlStmt>
    <rspStmt>
      <AuthEnty>
                    Alain LACHAUX                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="HOSPICES CIVILS DE LYON (HCL)">
        <ExtLink title="ROR" URI="https://ror.org/01502ca60" role="organisation id"/>
        <ExtLink title="SIREN" URI="266900273" role="organisation id"/>
      </AuthEnty>
      <AuthEnty>
                    Mathias RUIZ                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="HOSPICES CIVILS DE LYON (HCL)">
        <ExtLink title="ROR" URI="https://ror.org/01502ca60" role="organisation id"/>
        <ExtLink title="SIREN" URI="266900273" role="organisation id"/>
      </AuthEnty>
      <othId affiliation="" type="collaboration">
                                    </othId>
    </rspStmt>
    <prodStmt>
      <producer role="sponsor">
                                            HOSPICES CIVILS DE LYON (HCL)                    
                                    </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            LABORATOIRE FRANCAIS DU FRACTIONNEMENT ET DES BIOTECHNOLOGIES (LFB)                    
                                    </fundAg>
      <fundAg>
                                            MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES                    
                                    </fundAg>
    </prodStmt>
    <distStmt>
      <distrbtr abbr="null">
                    null</distrbtr>
      <contact affiliation="HOSPICES CIVILS DE LYON (HCL)" email="lioara.restier@chu-lyon.fr">
                    Lioara;MIRON-RESTIER
                                            <ExtLink title="ROR" URI="https://ror.org/01502ca60" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="266900273" role="organisation id"/>
                                    </contact>
      <contact affiliation="HOSPICES CIVILS DE LYON (HCL)" email="mathias.ruiz@chu-lyon.fr">
                    Mathias;RUIZ
                                            <ExtLink title="ROR" URI="https://ror.org/01502ca60" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="266900273" role="organisation id"/>
                                    </contact>
      <depDate date="2026-06-16"/>
      <distDate date="2026-06-16"/>
    </distStmt>
    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <keyword vocab="" vocabURI="">
                    occurrence of complications</keyword>
      <keyword vocab="" vocabURI="">
                    ultrasound/Doppler ultrasound</keyword>
      <keyword vocab="" vocabURI="">
                    FibroScan</keyword>
      <keyword vocab="" vocabURI="">
                    fibrosis test</keyword>
      <keyword vocab="" vocabURI="">
                    endoscopy and oesophageal video capsule</keyword>
      <keyword vocab="" vocabURI="">
                    platelets</keyword>
      <keyword vocab="" vocabURI="">
                    transaminase and gamma-GT</keyword>
      <keyword vocab="" vocabURI="">
                    Health episodes</keyword>
      <keyword vocab="" vocabURI="">
                    factors</keyword>
      <keyword vocab="" vocabURI="">
                    liver transplantation</keyword>
      <topcClas vocab="health theme">
                        Hepatology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/27c456a1-051a-42f6-b52a-3beff0487da7"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Diseases of the digestive system                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
    </subject>
    <abstract contentType="purpose">General objective: To investigate prognostic hepatic factors in A1AT deficient children. Investigation of factors associated with onset of complications: portal hypertension and its complications, severe liver failure, liver transplantation, abnormalities during respiratory function exploration. Secondary objectives: - To organise an active homogenised cohort follow-up. - To ensure that new cases are recorded. - To create a reference network in order to homogenise treatment.</abstract>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="2008-01-01"/>
      <nation abbr="fr">
                    France
                                            <concept vocab="ISO" vocabURI="fr"/>
                                    </nation>
      <geogUnit/>
      <anlyUnit>
                Individuals            </anlyUnit>
      <universe level="type" clusion="I">Patients population                    </universe>
      <universe level="sex" clusion="I">Male                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D008297"/>
                                                    </universe>
      <universe level="sex" clusion="I">Female                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D005260"/>
                                                    </universe>
      <universe level="age" clusion="I">Child, Preschool (2 to 5 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D002675"/>
                                                    </universe>
      <universe level="age" clusion="I">Child (6 to 12 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D002648"/>
                                                    </universe>
      <universe clusion="I">Children with DA1AT born after 1989, regardless of phenotype. DA1AT is defined as an alpha-1 antitrypsin deficiency lower than 1,1 g/l, and type ZZ or SZ MZ, MS, SS, detected by participating centres (service follow-up, or detected by corresponding neonatal services, family surveys, patient associations or dosage laboratories in the geographical area of participating services).                    </universe>
      <dataKind>Clinical data</dataKind>
      <dataKind>Biological data</dataKind>
      <dataKind>Paraclinical data (non-biological) : Imaging</dataKind>
    </sumDscr>
  </stdyInfo>
  <studyDevelopment>
    <developmentActivity type="primary evaluation">
      <description>Health event/morbidity
Health event/mortality</description>
    </developmentActivity>
  </studyDevelopment>
  <method>
    <dataColl>
      <sampProc>Other                                                            <concept vocab="CESSDA" vocabURI="Other"/>
                                                    </sampProc>
      <sampleFrame>
        <frameUnit>
          <unitType>Through organizations (health services or institutions</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>schools</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>businesses</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>etc.)</unitType>
        </frameUnit>
      </sampleFrame>
      <targetSampleSize>
        <sampleSizeFormula>&lt; 500 individuals                        </sampleSizeFormula>
      </targetSampleSize>
      <collMode>Interview with the participant (including clinical)                                                            <concept vocab="CESSDA" vocabURI="Interview"/>
                                                    </collMode>
      <sources>
        <sources>
          <sourceCitation>
                                    
                                    
                                                                    </sourceCitation>
          <srcOrig>Medico-administrative database</srcOrig>
        </sources>
      </sources>
    </dataColl>
    <notes>Observational Study</notes>
    <notes subject="research type">
                        Observational Study                    </notes>
    <notes subject="observational study method">
                        Cohort study                    </notes>
    <anlyInfo>
      <respRate>180</respRate>
    </anlyInfo>
    <stdyClas>Unknown</stdyClas>
  </method>
  <dataAccs>
    <setAvail>
      <avlStatus>
                            Restricted access                                                    </avlStatus>
    </setAvail>
    <useStmt>
      <restrctn>To be decided if data may be used by industrial teams Access for potentially interested LFB laboratories</restrctn>
      <conditions>To be decided if data may be used by academic teams.</conditions>
    </useStmt>
  </dataAccs>
  <othrStdyMat>
    <relMat>Access on specific project only</relMat>
  </othrStdyMat>
</stdyDscr>
<dataDscr>
</dataDscr></codeBook>
