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Procreazione assistita, pubblicate le linee guida: come funzionaMalattie rare,Professore Campanella Ucb conferma impegno per miastenia gravis e sindrome di Dravet di Adnkronos   04-07-2024 - 14:43 Link copiato #iubenda-cs-banner .iub_ts_bc:not(.iubenda-custom-content) *,#iubenda-cs-banner [class*=" iub"],#iubenda-cs-banner [class^=iub],.iubenda-tp-btn:not([data-tp-nostyle]){ 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(Adnkronos Salute) - Il mese di giugno, appena trascorso, è stato particolarmente ricco di iniziative dedicate ad alcune patologie rare che interessano principalmente il sistema nervoso centrale: il 2 giugno si è celebrata infatti la Giornata mondiale della miastenia gravis e il 23 quella della sindrome di Dravet. Sono malattie per le quali, negli ultimi anni, Ucb Pharma sta rivolgendo il proprio impegno, mettendo sempre al centro i pazienti e le loro testimonianze, e continuando a investire in innovazioni terapeutiche che abbiano un impatto positivo sulle loro vite. Per celebrare al meglio le due giornate mondiali - si legge in una nota - il 24 giugno l'azienda farmaceutica belga ha organizzato, presso i propri uffici di Milano, l'evento 'Alleviamo la fatica e lasciamo il segno', dedicato ai dipendenti con l'obiettivo di aumentare la consapevolezza sulle patologie, dando voce a chi vive con queste malattie rare attraverso il coinvolgimento diretto delle associazioni dei pazienti con video testimonianze di caregiver e pazienti, offrendo ai partecipanti una visione reale e toccante della quotidianità di queste persone. All'iniziativa hanno partecipato Isabella Brambilla, presidente dell'Associazione Dravet Italia, e Roberta Annunziata, dell'associazione Aim Campania. A seguito di queste testimonianze, è stato organizzato un workshop creativo e simbolico durante il quale i partecipanti hanno personalizzato delle magliette bianche su cui sono state scritte, sul retro, parole rappresentative del dolore e della fatica dei pazienti, trasferendone simbolicamente il peso sulle spalle. Sul fronte, hanno decorato le magliette con stencil a forma di zebra e unicorno, simboli legati alle due patologie, lasciando un segno tangibile del loro supporto e solidarietà.La miastenia gravis (gMG) - ricorda la nota - è una malattia autoimmune rara, cronica, caratterizzata da alterazioni morfologiche e funzionali responsabili del disturbo della trasmissione a livello della giunzione neuromuscolare, con manifestazioni cliniche eterogenee quali ptosi palpebrale (caduta delle palpebre), visione doppia, difficoltà a deglutire, masticare e parlare, oltre a una grave debolezza muscolare che può colpire vari distretti e che, quando coinvolge i muscoli della respirazione, può essere potenzialmente letale. Per questa patologia, lo scorso dicembre Ucb ha ottenuto l'approvazione europea per zilucoplan e nel gennaio 2024 per rozanolixizumab. Il primo è un peptide inibitore della componente 5 della cascata del complemento (inibitore C5), approvato dall'Ue come terapia aggiuntiva a quella standard in pazienti adulti positivi agli anticorpi anti-recettore dell'acetilcolina (AChR). E' l'unico farmaco della sua categoria a possedere un meccanismo d'azione duplice. Rozanolixizumab è un anticorpo monoclonale IgG4 umanizzato, che si lega al recettore Fc neonatale, determinando la riduzione delle IgG circolanti. Il farmaco è approvato come terapia add-on alla standard in pazienti adulti positivi agli anticorpi AChR o anti-tirosinchinasi muscolo-specifica (MuSK). La farmaceutica belga è quindi la prima e unica a possedere un portafoglio focalizzato sulla gMG, in grado di offrire terapie mirate sia agli anticorpi anti-AChR che a quelli anti-MuSK. Nel mese di maggio di quest'anno il 'Journal of Neurology' ha pubblicato i dati di un'analisi post hoc dello studio registrativo di fase 3 Raise e dello studio di estensione in aperto (Ole) Raise-XT, attualmente ancora in corso, che valuta l'effetto a lungo termine di zilucoplan sulla fatica, in pazienti adulti con gMG da moderata a grave, positivi agli anticorpi anti-recettore dell’acetilcolina (AChR-Ab+).La sindrome di Dravet - prosegue la nota - è una encefalopatia epilettica che inizia nell'infanzia ed è caratterizzata da convulsioni difficilmente trattabili con farmaci anti-crisi, disturbi cognitivi, comportamentali e motori, che persistono fino all'età adulta. Per questa grave patologia, Ucb ha acquisito da Zogenix un farmaco presente da circa 2 anni sul mercato italiano (fenfluramina), che ha dimostrato una riduzione significativa dal punto di vista statistico e clinico della frequenza delle crisi convulsive. Nel corso del recente Congresso internazionale di neurologia infantile (Icnc), l'azienda ha presentato i risultati finali dello studio di estensione in aperto a 3 anni (Ole) relativo a fenfluramina, che hanno dimostrato l'efficacia a lungo termine del farmaco come terapia add-on in pazienti di età compresa tra 2 e 32 anni. Le ulteriori valutazioni dei caregiver, secondo la Clinical Global Impression Scale, integrando i dati sulla riduzione del numero delle crisi, forniscono un endpoint di efficacia positivo. Tali risultati rafforzano il potenziale del trattamento a lungo termine e l'efficacia di fenfluramina fino a 3 anni, mostrando riduzioni significative e durature della frequenza mensile mediana delle crisi convulsive nelle persone affette dalla sindrome di Dravet, che rappresentano i principali obiettivi per il paziente, aiutandolo a raggiungere il massimo potenziale dello sviluppo e della qualità della vita. "Alla base del nostro impegno nelle malattie rare - afferma Federico Chinni, amministratore delegato di Ucb Pharma Italia - c'è la consapevolezza che molte di queste, spesso, sono patologie 'orfane', di interesse limitato per ricercatori e medici, per le quali non è disponibile una terapia. Scegliere di intraprendere questo percorso per Ucb ha significato impegnarsi con coraggio e responsabilità, per fare la differenza nella vita dei pazienti con patologie ancora poco conosciute e non idoneamente trattate. Il nostro obiettivo - conclude - è quello di trasformare la vita di ogni singola persona con una malattia rara, sviluppando farmaci innovativi, migliorando la diagnostica ed esplorando nuovi approcci al trattamento". di Adnkronos   04-07-2024 - 14:43 Link copiato Commenti Leggi la Netiquette

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