{"id":8972,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/summary-of-the-2022-family-conference-in-houston\/"},"modified":"2022-11-11T15:20:24","modified_gmt":"2022-11-11T15:20:24","slug":"summary-of-the-2022-family-conference-in-houston","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/summary-of-the-2022-family-conference-in-houston\/","title":{"rendered":"Zusammenfassung der Familienkonferenz 2022 in Houston"},"content":{"rendered":"

Die alle zwei Jahre stattfindende Familienkonferenz wurde von September 23 bis 24, 2022 in Houston (Texas, USA) abgehalten. Sie wurde von Prof. Huda Zoghbi vom Neurological Research Institute (NRI, Houston, Texas) organisiert. Das Programm war sehr umfangreich und umfasste Pr\u00e4sentationen von wissenschaftlichen Fortschritten zum Syndrom. <\/p>\n\n

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David und Prof. Huda Zoghbi<\/figcaption><\/figure>\n\n

David Covini, Vizepr\u00e4sident des franz\u00f6sischen Vereins \"Les petits Mec P2\", Vorsitzender des \u00f6sterreichischen Vereins \"Lasst uns MDS heilen\" und Mitglied der wissenschaftlichen Kommissionen beider NGOs, nahm an der Veranstaltung teil. Er traf sich mit den teilnehmenden Familien, den aktiven Mitgliedern der amerikanischen Verb\u00e4nde und den Forschern.<\/p>\n\n

David wurde dann von Prof. Huda Zoghbi und ihrem Team empfangen. Dieses Treffen erm\u00f6glichte es ihnen, die Entwicklung der Projekte genauer zu besprechen und Aktionen zu identifizieren, die unsere Hilfe und unseren Beitrag ben\u00f6tigten.<\/p>\n\n

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Von links nach rechts: Dr. Pehlivan, Prof. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n

<\/p>\n\n

Prof. Huda Zoghbi, Dr. Davut Pehlivan und Dr. Bernhard Suter fassten sp\u00e4ter die f\u00fcr uns wichtigen Punkte der Konferenz zusammen:<\/p>\n\n

    \n
  • Ionis Pharmaceuticals beabsichtigt, im Jahr 2023 eine Beobachtungsstudie oder Natural History Study zu starten, um mehr \u00fcber den nat\u00fcrlichen Krankheitsverlauf von MECP2 Duplication Syndrome (MDS) zu erfahren. Die natural history study wird voraussichtlich in den Vereinigten Staaten durchgef\u00fchrt und ist auf ca. 40 Personen mit MDS begrenzt. Es wird erwartet, dass die natural history study aus viertelj\u00e4hrlichen Besuchen im ersten Jahr, gefolgt von halbj\u00e4hrlichen Besuchen im zweiten Jahr bestehen wird. Ionis Pharmaceuticals beabsichtigt, im Jahr 2023 mit der FDA zu interagieren. Es ist jedoch wichtig, klarzustellen, dass sich dies von einer Einreichung oder Genehmigung eines IND-Antrags (Investigational new drug application) unterscheidet. Weitere Ank\u00fcndigungen werden von Ionis Pharmaceuticals gemacht.<\/li>\n<\/ul>\n\n
      \n
    • Drs. Davut Pehlivan und Sameer Bajikar sprachen \u00fcber die Genomstudien. Genomische Studien zeigen weiterhin, dass verschiedene Arten von Duplikationen (d.h. einfache - komplexe - Triplikation) und Messungen der H\u00f6he des MeCP2-Proteins die Dosierung von ASO (Antisens Oligonucleotide) leiten werden. Die Rekrutierung f\u00fcr die genetischen Studien wird fortgesetzt und Sie k\u00f6nnen von \u00fcberall auf der Welt teilnehmen.<\/li>\n<\/ul>\n\n
        \n
      • Dr. Mirjana Maletic-Savatic sprach \u00fcber die Biomarker-Studien. Biomarker-Entdeckungsstudien werden angestrebt und wir haben eine Handvoll Biomarker-Kandidaten, die sich zwischen MDS, Rett und gesunden Menschen unterscheiden. Unser Ziel ist es, die Liste der Biomarkerkandidaten durch die NHS-Studie zu verk\u00fcrzen und ein oder zwei starke Biomarker zu identifizieren, die den Schweregrad der Krankheit und die Reaktion auf ASO widerspiegeln k\u00f6nnen.<\/li>\n<\/ul>\n\n
          \n
        • Drs. Sarika Peters und Jeff Neul sprachen \u00fcber die Entwicklung der Outcome-Messung. There will be a multicenter clinical impression scale development effort with the goal of using this scale in the upcoming clinical trial.<\/li>\n<\/ul>\n\n
            \n
          • Dr. Zhenya Ivakine berichtete \u00fcber ein neu entwickeltes Mausmodell, das sowohl MECP2 als auch IRAK1 exprimiert, mit dem Ziel, ein besseres Tiermodell f\u00fcr die Verwendung in MDS-Studien zu schaffen. Er gab auch einen \u00dcberblick \u00fcber die CRISPR\/Cas9-basierte Genomeditierung bei MDS. Obwohl die Ergebnisse ermutigend sind, sind weitere Laboruntersuchungen erforderlich, bevor man zu humanen Studien \u00fcbergehen kann.<\/li>\n<\/ul>\n\n
              \n
            • Dr. Ashley Anderson stellte die vorl\u00e4ufigen Ergebnisse eines Screenings vor, das nach Regulatoren von MeCP2 suchen sollte. Die Hemmung solcher Regulatoren hat das Potenzial, zu neuen Therapien zu f\u00fchren, aber diese Studien befinden sich in der Fr\u00fchphase und bed\u00fcrfen weiterer Arbeit.<\/li>\n<\/ul>\n\n
                \n
              • We also heard from the clinical experts about common problems (e.g. gastrointestinal, epilepsy, frequent infections) in MDS. Da Epilepsie das Hauptproblem ist, das Regression bei MDS verursacht, und es keine klare Anleitung f\u00fcr die Medikation von Seizure gibt, planen wir eine gro\u00dfe, umfassende Umfrage, um den vorteilhaftesten Ansatz f\u00fcr die Behandlung von Seizure bei MDS zu ermitteln.<\/li>\n<\/ul>\n\n

                <\/p>","protected":false},"excerpt":{"rendered":"

                The biannual family conference was held in Houston (Texas, USA) from September 23 to 24, 2022. 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