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  <citation>
    <titlStmt>
      <titl>
                Observatory of Patients with laminopathies and emerinopathies            </titl>
      <altTitl>
                    OPALE                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF5054-en            </IDNo>
      <IDNo agency="PEF">
                    5054                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF5054                </IDNo>
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      <AuthEnty>
                    Karim WAHBI                                                                                                                                        <ExtLink title="ORCID" URI="0000-0001-7682-7387" role="pi id"/>
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                    Gisèle BONNE                                                                                                                                        <ExtLink title="ORCID" URI="0000-0002-2516-3258" role="pi id"/>
                                                                                                                    <ExtLink title="IdRef" URI="075894920" role="pi id"/>
                                                        </AuthEnty>
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      <othId affiliation="French Network of Emery-Dreifuss muscular dystrophy and other nuclear envelope diseases" type="collaboration">
                                    </othId>
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                                            INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="sponsor id"/>
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                </producer>
      <producer role="sponsor">
                                            ASSOCIATION INSTITUT DE MYOLOGIE (AIM)                                            <ExtLink title="ROR" URI="https://ror.org/0270xt841" role="sponsor id"/>
                                            <ExtLink title="SIREN" URI="483754347" role="sponsor id"/>
                    
                </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)                                            <ExtLink title="ROR" URI="https://ror.org/00pg5jh14"/>
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                                            ASSOCIATION INSTITUT DE MYOLOGIE (AIM)                                            <ExtLink title="ROR" URI="https://ror.org/0270xt841"/>
                                            <ExtLink title="SIREN" URI="483754347"/>
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                                            INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261"/>
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      <contact affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)" email="karim.wahbi@aphp.fr">
                    Karim;WAHBI
                                            <ExtLink title="ROR" URI="https://ror.org/00pg5jh14" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="267500452" role="organisation id"/>
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      <contact affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)" email="r.benyaou@institut-myologie.org">
                    Rabah;BEN YAOU
                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
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                    Gisèle;BONNE
                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180036048" role="organisation id"/>
                                    </contact>
      <depDate date="2026-10-16"/>
      <distDate date="2026-10-16"/>
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    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <studyAuthorization>
    <authorizingAgency>CNIL                </authorizingAgency>
    <authorizingAgency>ANSM                </authorizingAgency>
    <authorizingAgency>CPP                </authorizingAgency>
    <authorizingAgency>CESREES                </authorizingAgency>
    <authorizingAgency>Other                </authorizingAgency>
  </studyAuthorization>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <keyword vocab="" vocabURI="">
                    Natural history</keyword>
      <keyword vocab="" vocabURI="">
                    muscular</keyword>
      <keyword vocab="" vocabURI="">
                    cardiac</keyword>
      <keyword vocab="" vocabURI="">
                    orthopaedic and metabolic involvements</keyword>
      <keyword vocab="" vocabURI="">
                    joint contractures</keyword>
      <keyword vocab="" vocabURI="">
                    cardiomyopathies</keyword>
      <keyword vocab="" vocabURI="">
                    premature aging</keyword>
      <keyword vocab="" vocabURI="">
                    progeria</keyword>
      <keyword vocab="" vocabURI="">
                    respiratory</keyword>
      <keyword vocab="" vocabURI="">
                    myopathies</keyword>
      <keyword vocab="" vocabURI="">
                    lipodystrophies</keyword>
      <topcClas vocab="health theme">
                        Cardiology and vascular medicine                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/4455c187-2f2f-4cd1-a4dd-449f59d73b39 | http://data.europa.eu/8mn/euroscivoc/c42fc6ec-b216-4a24-9e9d-f5e781c175a0"/>
                                                            <ExtLink title="MeSH" URI="D002309"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Endocrinology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/d1dd1bac-5313-4ab3-837f-4acd3ec521a7"/>
                                                            <ExtLink title="MeSH" URI="D004704"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Neurology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/c4793dfe-e80e-49dd-9fcc-a1a742de1b25 | http://data.europa.eu/8mn/euroscivoc/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"/>
                                                            <ExtLink title="MeSH" URI="D009462"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Paediatrics                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"/>
                                                            <ExtLink title="MeSH" URI="D010372"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Primary disorders of muscles                                            </topcClas>
      <topcClas vocab="cim-11">
                        Metabolic disorders                                            </topcClas>
      <topcClas vocab="cim-11">
                        Cardiomyopathy                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
    </subject>
    <abstract contentType="purpose">to precise the natural history of musculrr, cardiac, respiratory, orthopaedic and metabolic involovements of patients suffering from laminopathies and emerinopathies. to identify cardiovascular, neurologic and respiratory prognosis factors. to identify obstetrical and perioperative complications related to laminopathies and emerinopathies. to identify correlations between LMNA/EMD gene mutations and the observated phenotypes. to have a repository ready for inclusion of patients in future therapeutic trials.</abstract>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="2013-01-01"/>
      <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="D008297"/>
                                                    </universe>
      <universe level="sex" clusion="I">Female                                                            <concept vocab="MeSH" vocabURI="D005260"/>
                                                    </universe>
      <universe level="age" clusion="I">Infant, Newborn (birth to 28 days)                                                            <concept vocab="MeSH" vocabURI="D007231"/>
                                                    </universe>
      <universe level="age" clusion="I">Infant (28 days to 2 years)                                                            <concept vocab="MeSH" vocabURI="D007223"/>
                                                    </universe>
      <universe level="age" clusion="I">Child, Preschool (2 to 5 years)                                                            <concept vocab="MeSH" vocabURI="D002675"/>
                                                    </universe>
      <universe level="age" clusion="I">Child (6 to 12 years)                                                            <concept vocab="MeSH" vocabURI="D002648"/>
                                                    </universe>
      <universe level="age" clusion="I">Adolescent (13 to 18 years)                                                            <concept vocab="MeSH" vocabURI="D000293"/>
                                                    </universe>
      <universe level="age" clusion="I">Young Adult (19 to 24 years)                                                            <concept vocab="MeSH" vocabURI="D055815"/>
                                                    </universe>
      <universe level="age" clusion="I">Adult (25 to 44 years)                                                            <concept vocab="MeSH" vocabURI="D000328"/>
                                                    </universe>
      <universe level="age" clusion="I">Middle Aged (45 to 64 years)                                                            <concept vocab="MeSH" vocabURI="D008875"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged (65 to 79 years)                                                            <concept vocab="MeSH" vocabURI="D000368"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged, 80 and over (80 years and more)                                                            <concept vocab="MeSH" vocabURI="D000369"/>
                                                    </universe>
      <universe clusion="I">all patient carrying a LMNA or a EMD gene mutation, including the paediatric population,  registered to Social Security Helathcare System.                    </universe>
      <dataKind>Clinical data</dataKind>
      <dataKind>Paraclinical data (non-biological)</dataKind>
      <dataKind>Paraclinical data (non-biological) : Imaging</dataKind>
      <dataKind>Paraclinical data (non-biological) : Other</dataKind>
      <dataKind>Biological data</dataKind>
      <dataKind>Socio-demographic data</dataKind>
    </sumDscr>
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    <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>[500-1000[ individuals                        </sampleSizeFormula>
      </targetSampleSize>
      <collMode>Interview with the participant (including clinical)                                                            <concept vocab="CESSDA" vocabURI="Interview"/>
                                                    </collMode>
    </dataColl>
    <notes>Observational Study</notes>
    <notes subject="research type">
                        Observational Study                    </notes>
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      <respRate>320</respRate>
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    <stdyClas>Unknown</stdyClas>
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      <avlStatus>
                            Restricted access                                                    </avlStatus>
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      <conditions>data access to investigators</conditions>
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    <relMat>Access on specific project only</relMat>
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