{"id":2312,"date":"2026-08-19T18:32:20","date_gmt":"2026-08-19T16:32:20","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?p=2312"},"modified":"2026-08-21T06:37:37","modified_gmt":"2026-08-21T04:37:37","slug":"conferenza-kleefstra-massachusetts-2026","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/it\/kleefstra-conference-massachusetts-2026\/","title":{"rendered":"Convegno delle famiglie e degli studiosi sul sindrome di Kleefstra nel Massachusetts, 2026"},"content":{"rendered":"

Tra le Dal 6 al 9 agosto 2026<\/strong>, famiglie, medici clinici, ricercatori e persone impegnate nello sviluppo di nuove terapie si sono riuniti a Waltham, nel Massachusetts, per il Conferenza delle famiglie nordamericane affette dalla sindrome di Kleefstra + Vertice scientifico<\/strong>. <\/p>\n\n\n\n

L'evento ha riunito nello stesso spazio due mondi ugualmente importanti per la comunit\u00e0 di Kleefstra: da un lato, l\u2019assistenza quotidiana e le esigenze delle famiglie e, dall\u2019altro, la ricerca scientifica che prepara il terreno per le terapie del futuro. Il messaggio centrale potrebbe essere riassunto in una frase, dalla cura alla terapia<\/strong>. L\u2019importanza dell\u2019incontro risiede nel coordinamento della comunit\u00e0 internazionale, in una migliore comprensione della sindrome e nella preparazione degli strumenti scientifici necessari affinch\u00e9, in futuro, si possano valutare nuovi approcci terapeutici.<\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

Scienza e famiglie nello stesso evento<\/h2>\n\n\n\n

\u0397 Convegno scientifico<\/strong>, tenutasi il 6 e il 7 agosto, si \u00e8 concentrata su temi quali i modelli preclinici, i biomarcatori, gli approcci terapeutici in fase di studio e la preparazione per future sperimentazioni cliniche. Parallelamente, il convegno rivolto alle famiglie e ai caregiver ha avuto un carattere pi\u00f9 pratico, con informazioni sull\u2019assistenza, contatti con esperti, pianificazione per il futuro e, soprattutto, l\u2019opportunit\u00e0 per le famiglie di incontrarsi e condividere le proprie esperienze.<\/p>\n\n\n\n

Questi due aspetti non sono indipendenti l\u2019uno dall\u2019altro. Nel campo delle malattie rare, la ricerca non pu\u00f2 progredire senza il coinvolgimento e le conoscenze della comunit\u00e0 stessa. Le famiglie sanno meglio di chiunque altro quali cambiamenti nella vita quotidiana di una persona affetta dalla sindrome di Kleefstra abbiano una reale importanza, sia che riguardino la comunicazione e l\u2019autosufficienza, sia il sonno, il comportamento e la capacit\u00e0 di partecipare alla vita quotidiana.<\/p>\n\n\n\n

Cosa significa \u00abprontezza per le sperimentazioni cliniche\u00bb?;<\/h2>\n\n\n\n

Il termine idoneit\u00e0 alla sperimentazione clinica<\/strong>, ovvero \u00abprontezza per le sperimentazioni cliniche\u00bb, pu\u00f2 facilmente dare l\u2019impressione che una terapia sia gi\u00e0 molto vicina alla fase di sperimentazione sull\u2019uomo. In realt\u00e0, descrive qualcosa di diverso: tutta la preparazione necessaria che deve precedere uno studio clinico affidabile. Per poter valutare, un giorno, se una nuova terapia funziona, i ricercatori devono prima conoscerla molto bene il decorso naturale della sindrome<\/strong>. Devono sapere quali cambiamenti possono verificarsi con l\u2019avanzare dell\u2019et\u00e0, quanto variano da persona a persona e quali strumenti consentono di misurare in modo affidabile un reale miglioramento o peggioramento. Sono inoltre necessari strumenti adeguati biomarcatori<\/strong>, misurazioni cliniche e valutazioni che non si limitino a riflettere un\u2019alterazione dei valori di laboratorio, ma che abbiano un impatto concreto sulla vita quotidiana della persona. Ci\u00f2 \u00e8 particolarmente importante nella sindrome di Kleefstra, in cui il quadro clinico e il decorso dello sviluppo possono variare in modo significativo da un individuo all\u2019altro.<\/p>\n\n\n\n

EHMT1 e terapia genica: di cosa si \u00e8 discusso<\/h2>\n\n\n\n

Uno degli argomenti del programma scientifico che ha suscitato particolare interesse \u00e8 stato quello della Studio preclinico preliminare di un approccio di terapia genica con vettore AAV per l\u2019EHMT1<\/strong>.<\/p>\n\n\n\n

La sindrome di Kleefstra \u00e8 solitamente causata quando una delle due copie funzionali del gene EHMT1<\/strong> non funziona correttamente. Questa situazione si chiama Aploinsufficienza di EHMT1<\/em> e ci\u00f2 significa che l'unica copia funzionale rimasta non \u00e8 sufficiente a garantire l'attivit\u00e0 fisiologicamente richiesta della proteina EHMT1. L'EHMT1 partecipa alla regolazione epigenetica dell'espressione genica<\/strong> e svolge un ruolo importante nello sviluppo e nel funzionamento del sistema nervoso.<\/p>\n\n\n\n

L'idea di base di un approccio basato sull'inserimento genico \u00e8 relativamente semplice in teoria. In assenza di una funzione adeguata del gene EHMT1, si valuta se l\u2019introduzione di un gene funzionante possa ripristinare parte di tale attivit\u00e0. Il AAV, virus adeno-associato<\/strong>, viene utilizzato in tali approcci di ricerca come vettore per il trasferimento del materiale genetico nelle cellule. Il vettore in s\u00e9 non costituisce la terapia, ma rappresenta il \u00abveicolo\u00bb attraverso il quale si cerca di trasferire l\u2019informazione genetica.<\/p>\n\n\n\n

In pratica, per\u00f2, la questione \u00e8 molto pi\u00f9 complessa.<\/p>\n\n\n\n

Nel caso dell\u2019EHMT1 non basta semplicemente produrre una maggiore quantit\u00e0 di proteina. Poich\u00e9 il gene partecipa alla regolazione dell\u2019attivit\u00e0 di molti altri geni, occorre studiare con grande precisione il livello di espressione, le cellule che raggiunger\u00e0, la sua durata, ma anche le possibili conseguenze indesiderate. Per questo motivo, tali approcci vengono prima testati in sistemi di laboratorio e modelli animali. I dati preclinici possono indicare se un\u2019idea \u00e8 sufficientemente promettente da passare alle fasi successive, ma non possono prevedere con certezza cosa accadr\u00e0 nell\u2019uomo.<\/p>\n\n\n\n

\n

Cosa significa questo incontro per le famiglie?;<\/h3>\n\n\n\n

Per le famiglie, forse il messaggio pi\u00f9 importante non \u00e8 che \u00absta arrivando una cura\u00bb, ma che La comunit\u00e0 di Kleefstra si sta organizzando sempre di pi\u00f9 per essere pronta quando le opzioni terapeutiche giungeranno alla fase della valutazione clinica<\/strong>. <\/p>\n\n\n\n

La registrazione sistematica del decorso naturale, lo sviluppo di biomarcatori adeguati, la creazione di reti internazionali, il coinvolgimento delle famiglie e il consenso su ci\u00f2 che \u00e8 realmente considerato un cambiamento clinico significativo costituiscono passi indispensabili. Allo stesso tempo, l\u2019assistenza di oggi non pu\u00f2 attendere la cura di domani. Le persone affette dalla sindrome di Kleefstra continuano ad avere bisogno di assistenza medica personalizzata, sostegno allo sviluppo e risposta tempestiva alle loro esigenze specifiche<\/strong>, in conformit\u00e0 con le linee guida cliniche disponibili e in collaborazione con gli operatori sanitari curanti.<\/p>\n\n\n\n

L'incontro a Waltham non ha rappresentato l'annuncio di una scoperta terapeutica. Ha costituito, tuttavia, un ulteriore passo verso qualcosa di altrettanto necessario, una comunit\u00e0 meglio organizzata, un\u2019infrastruttura di ricerca pi\u00f9 matura e un percorso pi\u00f9 chiaro dalla conoscenza e dall\u2019assistenza verso le terapie future<\/strong>.I progressi effettivi potranno essere valutati ogni volta che verranno pubblicati nuovi dati, che si tratti di risultati preclinici, di studi sul decorso naturale della malattia o, in futuro, di sperimentazioni cliniche sull'uomo.<\/p>\n<\/div><\/div>\n\n\n\n

\n

Fonti<\/h2>\n\n\n\n

Conferenza nordamericana sulla sindrome di Kleefstra 2026, IDefine<\/strong>
https:\/\/www.idefine.org\/2026-north-american-kleefstra-syndrome-conference\/<\/a><\/p>\n\n\n\n

IDefine Inc., Conferenza scientifica e delle famiglie nordamericane affette dalla sindrome di Kleefstra 2026<\/strong>
https:\/\/idefine.networkforgood.com\/events\/97467-2026-north-american-kleefstra-syndrome-family-scientific-conference<\/a><\/p>\n\n\n\n

Per i ricercatori, IDefine<\/strong>
https:\/\/www.idefine.org\/for-researchers\/<\/a><\/p>\n\n\n\n

<\/p>\n<\/div><\/div>\n\n\n\n

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