ParkinsonFranceV1, Hal, Curation, bibRecord, 000336

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

Identifieur interne : 000336 ( Hal/Curation ); précédent : 000335; suivant : 000337

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

Auteurs : Amy Farmer [Royaume-Uni] ; Ségolène Aymé [France] ; Miguel De Heredia [Espagne] ; Pietro Maffei [Italie] ; Susan Mccafferty [Royaume-Uni] ; Wojciech Młynarski [Pologne] ; Virginia Nunes [Espagne] ; Kay Parkinson [Royaume-Uni] ; Véronique Paquis-Flucklinger [France] ; Julia Rohayem [Allemagne] ; Richard Sinnott [Australie] ; Vallo Tillmann [Estonie] ; Lisbeth Tranebj Rg [Danemark] ; Timothy Barrett [Royaume-Uni]

Source :

BMC Pediatrics [ 1471-2431 ] ; 2013-08-27.

RBID : Hal:inserm-00868749

Abstract

BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.

Url:

http://www.hal.inserm.fr/inserm-00868749

DOI: 10.1186/1471-2431-13-130

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Le document en format XML

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<author><name sortKey="Barrett, Timothy" sort="Barrett, Timothy" uniqKey="Barrett T" first="Timothy" last="Barrett">Timothy Barrett</name>
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<idno type="DOI">10.1186/1471-2431-13-130</idno>
<series><title level="j">BMC Pediatrics</title>
<idno type="ISSN">1471-2431</idno>
<imprint><date type="datePub">2013-08-27</date>
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<profileDesc><textClass><keywords scheme="mix" xml:lang="af"><term>Alström</term>
<term>Bardet-Biedl</term>
<term>Diabetes</term>
<term>Patient registries</term>
<term>Rare diseases</term>
<term>Wolfram</term>
</keywords>
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<front><div type="abstract" xml:lang="en">BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.</div>
</front>
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<hal api="V3">          <titleStmt>            <title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
            <author role="aut">              <persName>                <forename type="first">Amy</forename>
                <surname>Farmer</surname>
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                <surname>Aymé</surname>
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            <author role="aut">              <persName>                <forename type="first">Miguel</forename>
                <forename type="middle">Lopez</forename>
                <surname>De Heredia</surname>
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            <author role="aut">              <persName>                <forename type="first">Pietro</forename>
                <surname>Maffei</surname>
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            <author role="aut">              <persName>                <forename type="first">Virginia</forename>
                <surname>Nunes</surname>
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            <author role="aut">              <persName>                <forename type="first">Véronique</forename>
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            <author role="aut">              <persName>                <forename type="first">Julia</forename>
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            <author role="aut">              <persName>                <forename type="first">Lisbeth</forename>
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                <surname>Barrett</surname>
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              <email type="domain">bham.ac.uk</email>
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            <editor role="depositor">              <persName>                <forename>Ed.</forename>
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            <funder>The EURO-WABB project has received funding from the European Union, in the framework of the Health Programme (Grant Agreement Reference: 2010 12 05)</funder>
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            <idno type="stamp" n="UNICE">Université Nice Sophia Antipolis</idno>
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            <note type="popular" n="0">No</note>
            <note type="peer" n="1">Yes</note>
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          <sourceDesc>            <biblStruct>              <analytic>                <title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
                <author role="aut">                  <persName>                    <forename type="first">Amy</forename>
                    <surname>Farmer</surname>
                  </persName>
                  <email type="md5">0a66aeff319aee5fba2e0dcde88f5b3e</email>
                  <email type="domain">bch.nhs.uk</email>
                  <idno type="halauthorid">894895</idno>
                  <affiliation ref="#struct-150160"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Ségolène</forename>
                    <surname>Aymé</surname>
                  </persName>
                  <email type="md5">49be183b633367aa220258019499e51e</email>
                  <email type="domain">inserm.fr</email>
                  <idno type="halauthorid">611886</idno>
                  <affiliation ref="#struct-183605"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Miguel</forename>
                    <forename type="middle">Lopez</forename>
                    <surname>De Heredia</surname>
                  </persName>
                  <email type="md5">52d76dcca16e7dacde401d0b8cf440eb</email>
                  <email type="domain">idibell.cat</email>
                  <idno type="halauthorid">894896</idno>
                  <affiliation ref="#struct-232508"></affiliation>
                  <affiliation ref="#struct-232509"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Pietro</forename>
                    <surname>Maffei</surname>
                  </persName>
                  <email type="md5">96baa21c9503475d0881873ddaf48688</email>
                  <email type="domain">libero.it</email>
                  <idno type="halauthorid">894897</idno>
                  <affiliation ref="#struct-232510"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Susan</forename>
                    <surname>McCafferty</surname>
                  </persName>
                  <email type="md5">0aaa863d7589777387b69c51b0c1f304</email>
                  <email type="domain">glasgow.ac.uk</email>
                  <idno type="halauthorid">894898</idno>
                  <affiliation ref="#struct-232511"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Wojciech</forename>
                    <surname>Młynarski</surname>
                  </persName>
                  <email type="md5">2feee3ceadcc96a6ad9e18e5fd8ce722</email>
                  <email type="domain">joslin.harvard.edu</email>
                  <idno type="halauthorid">894899</idno>
                  <affiliation ref="#struct-232512"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Virginia</forename>
                    <surname>Nunes</surname>
                  </persName>
                  <email type="md5">4f0fcfad721d1cfff09405d2ba14e917</email>
                  <email type="domain">idibell.cat</email>
                  <idno type="halauthorid">894900</idno>
                  <affiliation ref="#struct-232508"></affiliation>
                  <affiliation ref="#struct-232509"></affiliation>
                  <affiliation ref="#struct-232515"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Kay</forename>
                    <surname>Parkinson</surname>
                  </persName>
                  <email type="md5">361ddfab795b2d580014db131f13b883</email>
                  <email type="domain">alstrom.org.uk</email>
                  <idno type="halauthorid">894901</idno>
                  <affiliation ref="#struct-232516"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Véronique</forename>
                    <surname>Paquis-Flucklinger</surname>
                  </persName>
                  <email type="md5">7aa1ca2c9d0efc10808bcc97e1f75624</email>
                  <email type="domain">unice.fr</email>
                  <idno type="halauthorid">894902</idno>
                  <affiliation ref="#struct-182186"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Julia</forename>
                    <surname>Rohayem</surname>
                  </persName>
                  <email type="md5">f223882abbfdb510f4008fbf51abbf29</email>
                  <email type="domain">ukmuenster.de</email>
                  <idno type="halauthorid">894903</idno>
                  <affiliation ref="#struct-232518"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Richard</forename>
                    <surname>Sinnott</surname>
                  </persName>
                  <email type="md5">b0bdbff2ce0ba084a67a4bb9e65a06c8</email>
                  <email type="domain">unimelb.edu.au</email>
                  <idno type="halauthorid">894904</idno>
                  <affiliation ref="#struct-188163"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Vallo</forename>
                    <surname>Tillmann</surname>
                  </persName>
                  <email type="md5">25f254b4e821458f8f9d158f8d1c1524</email>
                  <email type="domain">kliinikum.ee</email>
                  <idno type="halauthorid">894905</idno>
                  <affiliation ref="#struct-232520"></affiliation>
                </author>
                <author role="aut">                  <persName>                    <forename type="first">Lisbeth</forename>
                    <surname>Tranebjærg</surname>
                  </persName>
                  <email type="md5">b90a21e5eca619d85c123cbca8b66208</email>
                  <email type="domain">sund.ku.dk</email>
                  <idno type="halauthorid">894906</idno>
                  <affiliation ref="#struct-232521"></affiliation>
                  <affiliation ref="#struct-232522"></affiliation>
                </author>
                <author role="crp">                  <persName>                    <forename type="first">Timothy</forename>
                    <surname>Barrett</surname>
                  </persName>
                  <email type="md5">525fcd545f7922a3f55d72d5524da6c5</email>
                  <email type="domain">bham.ac.uk</email>
                  <idno type="halauthorid">786291</idno>
                  <affiliation ref="#struct-232523"></affiliation>
                </author>
              </analytic>
              <monogr>                <idno type="halJournalId" status="VALID">357</idno>
                <idno type="issn">1471-2431</idno>
                <title level="j">BMC Pediatrics</title>
                <imprint>                  <publisher>BioMed Central</publisher>
                  <biblScope unit="volume">13</biblScope>
                  <biblScope unit="issue">1</biblScope>
                  <biblScope unit="pp">130</biblScope>
                  <date type="datePub">2013-08-27</date>
                  <date type="dateEpub">2013-08-27</date>
                </imprint>
              </monogr>
              <idno type="doi">10.1186/1471-2431-13-130</idno>
              <idno type="pubmed">23981649</idno>
            </biblStruct>
          </sourceDesc>
          <profileDesc>            <langUsage>              <language ident="en">English</language>
            </langUsage>
            <textClass>              <keywords scheme="author">                <term xml:lang="af">Wolfram</term>
                <term xml:lang="af">Alström</term>
                <term xml:lang="af">Bardet-Biedl</term>
                <term xml:lang="af">Diabetes</term>
                <term xml:lang="af">Patient registries</term>
                <term xml:lang="af">Rare diseases</term>
              </keywords>
              <classCode scheme="halDomain" n="sdv.mhep.ped">Life Sciences [q-bio]/Human health and pathology/Pediatrics</classCode>
              <classCode scheme="halTypology" n="ART">Journal articles</classCode>
            </textClass>
            <abstract xml:lang="en">BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.</abstract>
          </profileDesc>
        </hal>
</record>

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La maladie de Parkinson en France (serveur d'exploration)

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

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