{"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":"sintesi-della-conferenza-delle-famiglie-del-2022-a-houston","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/sintesi-della-conferenza-delle-famiglie-del-2022-a-houston\/","title":{"rendered":"Sintesi della conferenza sulle famiglie del 2022 a Houston"},"content":{"rendered":"

La conferenza biennale sulla famiglia si \u00e8 tenuta a Houston (Texas, USA) dal 23 al 24 settembre 2022. \u00c8 stata organizzata dalla professoressa Huda Zoghbi del Neurological Research Institute (NRI, Houston, Texas). Il programma \u00e8 stato molto intenso e ha incluso presentazioni di progressi scientifici sulla sindrome. <\/p>\n\n

\"\"
David e la professoressa Huda Zoghbi<\/figcaption><\/figure>\n\n

David Covini, vicepresidente dell'associazione francese \"Les petits Mec P2\", presidente dell'associazione austriaca \"Lasst uns MDS heilen e membro delle commissioni scientifiche di entrambe le ONG, ha partecipato all'evento. Ha incontrato le famiglie partecipanti, i membri attivi delle associazioni americane e i ricercatori.<\/p>\n\n

David \u00e8 stato poi ricevuto dalla professoressa Huda Zoghbi e dal suo team. L'incontro ha permesso di discutere pi\u00f9 dettagliatamente l'evoluzione dei progetti e di individuare le azioni che necessitano del nostro aiuto e contributo.<\/p>\n\n

\"\"
Da sinistra a destra: Dr. Pehlivan, Prof. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n

<\/p>\n\n

Il Prof. Huda Zoghbi, il Dr. Davut Pehlivan e il Dr. Bernhard Suter ci hanno riassunto i punti pi\u00f9 importanti della conferenza:<\/p>\n\n

    \n
  • Ionis Pharmaceuticals intende avviare uno studio osservazionale o di storia naturale per conoscere meglio la progressione naturale della malattia della sindrome da duplicazione MECP2 (MDS) nel 2023. Lo studio di storia naturale dovrebbe essere condotto negli Stati Uniti e sar\u00e0 di dimensioni limitate per includere circa 40 individui con MDS. Si prevede che lo studio di storia naturale comprender\u00e0 visite trimestrali nel primo anno, seguite da visite semestrali nel secondo anno. Ionis Pharmaceuticals intende interagire con la FDA nel 2023. Tuttavia, \u00e8 importante chiarire che ci\u00f2 si distingue dalla presentazione o dall'approvazione di un IND (Investigational new drug application). Ionis Pharmaceuticals far\u00e0 ulteriori annunci.<\/li>\n<\/ul>\n\n
      \n
    • I dott. Davut Pehlivan e Sameer Bajikar hanno parlato degli studi genomici. Gli studi genomici continuano a rivelare che i diversi tipi di duplicazioni (cio\u00e8 semplici - complesse - triplicate) e le misurazioni del livello della proteina MeCP2 guideranno il dosaggio dell'ASO (Oligonucleotide Antisens). Il reclutamento per gli studi genetici \u00e8 in corso e si pu\u00f2 partecipare da qualsiasi parte del mondo.<\/li>\n<\/ul>\n\n
        \n
      • La dott.ssa Mirjana Maletic-Savatic ha parlato degli studi sui biomarcatori. Gli studi sulla scoperta dei biomarcatori sono in corso e abbiamo una manciata di candidati biomarcatori che differiscono tra MDS, Rett e individui sani. Il nostro obiettivo \u00e8 quello di restringere l'elenco dei biomarcatori candidati attraverso lo studio NHS e identificare uno o due biomarcatori forti che possano riflettere la gravit\u00e0 della malattia e la risposta all'ASO.<\/li>\n<\/ul>\n\n
          \n
        • I dottori Sarika Peters e Jeff Neul hanno parlato dello sviluppo di misure di outcome. \u00c8 previsto uno sforzo multicentrico per lo sviluppo della scala dell'impressione clinica, con l'obiettivo di utilizzarla nel prossimo studio clinico.<\/li>\n<\/ul>\n\n
            \n
          • Il Dr. Zhenya Ivakine ha presentato un nuovo modello di topo che esprime sia MECP2 che IRAK1, con l'obiettivo di ottenere un modello animale migliore da utilizzare negli studi sulle MDS. Ha inoltre fornito un aggiornamento sull'editing del genoma basato su CRISPR\/Cas9 nelle MDS. Sebbene i risultati siano incoraggianti, sono necessari ulteriori studi di laboratorio prima di procedere a studi sull'uomo.<\/li>\n<\/ul>\n\n
              \n
            • La dott.ssa Ashley Anderson ha presentato i risultati preliminari di uno screening progettato per trovare i regolatori di MeCP2. L'inibizione di tali regolatori pu\u00f2 potenzialmente portare a nuovi trattamenti, ma questi studi sono in fase iniziale e necessitano di ulteriore lavoro.<\/li>\n<\/ul>\n\n
                \n
              • Abbiamo anche ascoltato gli esperti clinici sui problemi comuni (ad esempio, gastrointestinali, epilessia, infezioni frequenti) nelle SMD. Dato che l'epilessia \u00e8 il problema principale che causa la regressione nelle SMD e che non esistono indicazioni chiare sui farmaci per le crisi, abbiamo intenzione di lanciare un ampio studio di indagine per identificare l'approccio pi\u00f9 vantaggioso per la gestione delle crisi nelle SMD.<\/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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