{"id":1684,"date":"2012-09-24T22:30:31","date_gmt":"2012-09-24T22:30:31","guid":{"rendered":"https:\/\/www.progeriaresearch.org\/?page_id=1684"},"modified":"2023-09-21T12:18:41","modified_gmt":"2023-09-21T16:18:41","slug":"first-ever-progeria-treatment","status":"publish","type":"page","link":"https:\/\/www.progeriaresearch.org\/it\/first-ever-progeria-treatment\/","title":{"rendered":"Primo trattamento per la progeria"},"content":{"rendered":"

Italiano: [et_pb_section fb_built=\u201d1\u2033 _builder_version=\u201d4.16\u2033 global_colors_info=\u201d{}\u201d][et_pb_row _builder_version=\u201d4.16\u2033 background_size=\u201diniziale\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dripeti\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d4_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.16\u2033 background_size=\u201diniziale\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dripeti\u201d global_colors_info=\u201d{}\u201d]<\/p>\n

\u00c8 stata fatta la storia: tutti i bambini coinvolti nel primo studio clinico sul farmaco anti-Progeria hanno mostrato miglioramenti in uno o pi\u00f9 aspetti della loro condizione, dimostrando che il farmaco FTI lonafarnib \u00e8 il primo trattamento noto ed efficace per i bambini affetti da Progeria.<\/p>\n

Clicca qui per ricevere una copia gratuita del documento sui risultati della sperimentazione clinica<\/strong><\/a><\/p>\n

\"\"

Megan e Meghan sono state le prime due bambine ad arruolarsi nella sperimentazione. Le due bambine si sono incontrate a Boston ogni quattro mesi per due anni, per i test, per ricevere una nuova fornitura di farmaci e per giocare insieme! Eccole qui nel dicembre 2008, in pausa dai test al Boston Children's Hospital.<\/strong><\/span><\/p><\/div>\n

PER I MEDIA:\u00a0 <\/strong>clicca qui<\/a> per il comunicato stampa, b-roll e altri dettagli stampa.<\/p>\n

I risultati di <\/strong>il primo studio clinico di un farmaco per bambini<\/strong><\/a> con la Progeria sono arrivati ed \u00e8 ufficiale!<\/strong>\u00a0 Il lonafarnib, un tipo di inibitore della farnesiltransferasi (FTI) originariamente sviluppato per trattare il cancro, si \u00e8 dimostrato efficace per la progeria. Ogni bambino mostra miglioramenti in uno o pi\u00f9 dei quattro modi: aumento di peso, migliore udito, struttura ossea migliorata e\/o, cosa pi\u00f9 importante, maggiore flessibilit\u00e0 dei vasi sanguigni. I risultati dello studio, che \u00e8 stato finanziato e coordinato dalla Progeria Research Foundation<\/strong>, sono stati pubblicati il 24 settembre 2012 in Atti dell'Accademia nazionale delle scienze<\/a>.<\/em><\/strong><\/p>\n

Gordon et. al., Studio clinico di un inibitore della farnesiltransferasi nei bambini con sindrome di Hutchinson-Gilford Progeria, PNAS, 9 ottobre 2012 vol. 109 n. 41 16666-16671<\/em><\/p>\n

\"\"

Natsuki, dal Giappone, con il fratello, il padre e la madre che prepara la miscela di dolcificante liquido lonafarnib.<\/strong><\/span><\/p><\/div>\n

I risultati portano a miglioramenti in tutti i bambini<\/strong>
Ventotto bambini provenienti da sedici paesi hanno partecipato alla sperimentazione farmacologica di 2 anni e mezzo, rappresentando il 75 percento dei casi noti di Progeria in tutto il mondo al momento dell'inizio della sperimentazione. I bambini si recavano a Boston ogni quattro mesi per sottoporsi a test medici completi e farmaci di studio tramite il Boston Children's Hospital Unit\u00e0 di studio clinico e traslazionale<\/a>Tutti hanno ricevuto lonafarnib orale, un FTI fornito da Merck & Co., due volte al giorno per due anni, sotto la supervisione del presidente della sperimentazione clinica Mark Kieran, MD, Ph.D., Direttore di Neuro-oncologia medica pediatrica presso il Dana-Farber \/ Children's Hospital Cancer Center, e dei co-presidenti Dott.ssa Monica Kleinman e Dott.ssa Leslie Gordon<\/p>\n

Il tasso di aumento di peso \u00e8 stato il principale esito misurato, perch\u00e9 i bambini con Progeria hanno una grave incapacit\u00e0 di crescere, con un tasso lineare molto lento di aumento di peso nel tempo. I ricercatori hanno esaminato molte altre aree del corpo, tra cui la rigidit\u00e0 arteriosa (un predittore di infarto e ictus), la rigidit\u00e0 ossea (un indicatore della resistenza ossea) e l'udito. "Quando abbiamo iniziato questo studio clinico non avevamo idea se qualche aspetto della Progeria sarebbe stato reversibile, perch\u00e9 nessuno aveva mai condotto uno studio clinico di trattamento per la Progeria prima. Abbiamo scoperto che, tra le altre cose, i principali vasi sanguigni possono effettivamente migliorare. Questa \u00e8 stata una scoperta rivoluzionaria per i bambini, poich\u00e9 la malattia cardiovascolare accelerata \u00e8 la causa di morte nella Progeria. Sebbene non ci sia modo di sapere se abbiamo ictus ritardati, infarti o una maggiore longevit\u00e0 in un periodo di trattamento di soli 2 anni, questi risultati positivi ci spingono a continuare a spingere per nuovi trattamenti finch\u00e9 non realizziamo ci\u00f2 che ci siamo prefissati di fare nel 1999. Vogliamo che i bambini con Progeria vivano fino a 80 anni e oltre. "Vogliamo che vivano una vita piena e sana", ha affermato il dott. Gordon, direttore medico della PRF e primo autore del documento sulla scoperta del trattamento.<\/p>\n

Ritmo record di progressi<\/strong><\/p>\n

La scoperta del trattamento arriva meno di un decennio dopo che PRF e ora il direttore del National Institutes of Health, il dott. Francis Collins, hanno unito le forze per identificare la causa della Progeria, una cronologia inaudita nel mondo della ricerca medica! Ma per PRF e i bambini con Progeria, che vivono in media solo 13 anni, tale rapidit\u00e0 \u00e8 fondamentale per vincere questa corsa contro il tempo.<\/p>\n

\"\"

Mateo, Milagros e Fernando sono tutti sorridenti quando ricevono i premi da PRF alla loro ultima visita. I trofei dicono: "CE L'HAI FATTA! Hai completato il 1\u00b0 Progeria Trial - Sei UNA SUPERSTAR!"<\/strong><\/span><\/p><\/div>\n

"PRF \u00e8 un buon esempio di un'organizzazione che ha consentito con successo la ricerca traslazionale, passando dalla scoperta genetica al trattamento clinico a un ritmo senza precedenti", ha affermato il dott. Kieran. "Dal 1999, quando l'organizzazione \u00e8 stata fondata, a oggi, PRF ha identificato la mutazione genetica che causa la malattia, ha finanziato la ricerca preclinica, ha completato questa sperimentazione, ne ha avviata una seconda e sta attualmente lavorando con il nostro team al Boston Children's Hospital per pianificare un'altra sperimentazione con farmaci che, come gli FTI, hanno mostrato risultati entusiasmanti nelle cellule di Progeria e nei modelli animali. Si tratta di un record di risultati straordinario.<\/p>\n

SIAMO D'ACCORDO! <\/strong>Come siamo arrivati a questo giorno meraviglioso?<\/strong>
Dopo il 2003 scoperta della mutazione genetica che causa la Progeria<\/a>, i ricercatori finanziati dal PRF hanno identificato FTI<\/a> come potenziale trattamento farmacologico. La mutazione che causa la Progeria porta alla produzione della proteina progerina<\/em>, che danneggia la funzione cellulare. Parte dell'effetto tossico della progerina sul corpo \u00e8 causato da una molecola chiamata "gruppo farnesile", che si lega alla proteina progerina e la aiuta a danneggiare le cellule del corpo. Gli FTI agiscono bloccando l'attaccamento del gruppo farnesile alla progerina, riducendo il danno causato dalla progerina.<\/p>\n

Per maggiori dettagli sullo studio, <\/strong>CLICCA QUI per il comunicato stampa<\/strong><\/a><\/p>\n

Progeria collegata al normale processo di invecchiamento<\/strong>
Ricerca<\/a> dimostra che la proteina che causa la progeria progerina<\/em> viene prodotto anche nella popolazione generale e aumenta con l'et\u00e0. I ricercatori hanno in programma di continuare a esplorare l'effetto degli FTI, che potrebbero aiutare gli scienziati a saperne di pi\u00f9 sulla malattia cardiovascolare che colpisce milioni di persone, nonch\u00e9 sul normale processo di invecchiamento che colpisce tutti noi.<\/p>\n

\n

"Collegare questa rara malattia e il normale invecchiamento sta dando i suoi frutti in modo importante... si ottengono preziose intuizioni biologiche studiando disturbi rari come la Progeria. Fin dall'inizio, avevamo la sensazione che la Progeria avesse molto da insegnarci sul normale processo di invecchiamento".<\/p>\n

\u2013 Dott. Francis Collins, Direttore del National Institutes of Health<\/p>\n<\/blockquote>\n

\"\"

Che sorriso! Maria si \u00e8 divertita molto a dipingere durante una delle sue pause dagli esami al Boston Children's Hospital.<\/strong><\/span><\/p><\/div>\n

Aiutaci a trovare tutti i bambini affetti da progeria affinch\u00e9 anche loro possano trarre beneficio dal nostro lavoro<\/strong>
I ricercatori ritengono che in un dato momento ci siano 200-250 bambini che vivono con la Progeria. Per identificare i bambini sconosciuti, PRF ha lanciato il \u201cTrova gli altri 150\u201d<\/a> campagna nell'ottobre 2009 e, a partire da settembre 2012, sappiamo di 96 bambini che vivono in 35 paesi, un aumento di 83%!! Puoi aiutarci a trovarne altri in modo che possano beneficiare del trattamento e delle cure unici forniti da PRF. Questi nuovi bambini potrebbero essere idonei per futuri studi clinici, quindi vai a <\/em>Trova gli altri 150<\/em><\/a>\u00a0per scoprire come puoi contribuire a rendere tutto questo possibile.<\/em><\/p>\n

Grazie a TUTTI <\/strong>\u2013<\/strong> Non avremmo potuto farcela senza di voi!<\/strong><\/a>
Uno dei motivi principali per cui abbiamo ottenuto risultati rivoluzionari in questa prima sperimentazione \u00e8 dovuto ai grandi sostenitori che hanno fornito finanziamenti e altro supporto, aiutandoci ad avvicinarci di un passo al raggiungimento del nostro obiettivo finale: una cura per la Progeria. Clicca qui per vedere uno speciale tributo a tutti coloro che hanno contribuito a rendere sogno<\/em> di un trattamento a realt\u00e0<\/em><\/strong>.<\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":"

[et_pb_section fb_built=\u201d1\u2033 _builder_version=\u201d4.16\u2033 global_colors_info=\u201d{}\u201d][et_pb_row _builder_version=\u201d4.16\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d4_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.16\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d global_colors_info=\u201d{}\u201d] \u00c8 stata fatta la storia, con ogni bambino nel primo studio clinico sul farmaco Progeria che ha mostrato miglioramenti in una o pi\u00f9 aree della loro condizione, dimostrando che il farmaco FTI lonafarnib \u00e8 il primo trattamento noto ed efficace [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"

History has been made, with every child in the first-ever Progeria clinical drug trial showing improvement in one or more areas of their condition, proving that the FTI drug lonafarnib is the first known, effective treatment for children with Progeria.<\/p>

Click here for your free copy of the clinical trial results paper<\/strong><\/a><\/p>[caption id=\"\" align=\"alignleft\" width=\"300\"]\"\" Megan and Meghan were the first two children to enroll in the trial. The two girls met in Boston every four months for two years, for testing, to receive new drug supply, and to play together! Here they are in December 2008, on a break from tests at Boston Children\u2019s\u2019 Hospital.<\/strong><\/span>[\/caption]

FOR MEDIA:\u00a0 <\/strong>click here<\/a> for the press release, b-roll and other press details.<\/p>

The results of <\/strong>the first-ever clinical drug trial for children<\/strong><\/a> with Progeria are in and it\u2019s official!<\/strong>\u00a0 Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and\/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation<\/strong>, were published September 24, 2012 in Proceedings of the National Academy of Sciences<\/a>.<\/em><\/strong><\/p>

Gordon et. al., Clinical Trial of a Farnesyltransferase Inhibitor in Children with Hutchinson-Gilford Progeria Syndrome, PNAS, October 9, 2012 vol. 109 no. 41 16666-16671<\/em><\/p>[caption id=\"\" align=\"alignleft\" width=\"287\"]\"\" Natsuki, from Japan, with her brother, father and mother who prepares the lonafarnib-liquid sweetener mixture.<\/strong><\/span>[\/caption]

Results Yield Improvements in All Children<\/strong>
Twenty-eight children from sixteen countries participated in the 2 \u00bd year drug trial, representing 75 percent of known Progeria cases worldwide at the time the trial began. The children traveled to Boston every four months to receive comprehensive medical testing and study medications through Boston Children\u2019s Hospital\u2019s Clinical and Translational Study Unit<\/a>. All received oral lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years, under the supervision of clinical trial chair Mark Kieran, M.D., Ph.D.<\/a>, Director of Pediatric Medical Neuro-oncology at the Dana-Farber \/ Children\u2019s Hospital Cancer Center, and co-chairs Dr. Monica Kleinman<\/a> and Dr. Leslie Gordon<\/a><\/p>

Rate of weight gain was the primary outcome measure, because children with Progeria experience severe failure to thrive, with a very slow linear rate of weight gain over time. The researchers examined many other areas of the body, including arterial stiffness (a predictor of heart attack and stroke), bone rigidity (an indicator of bone strength) and hearing. \u201cWhen we started this clinical trial we had no idea whether any aspect of Progeria would be reversible, because no one had ever conducted a clinical treatment trial for Progeria before.\u00a0 We discovered that, among other things, the major blood vessels can actually improve.\u00a0 This was a breakthrough discovery for the children, since accelerated cardiovascular disease is the cause of death in Progeria. Though there is no way to know whether we have delayed strokes, heart attacks, or increased longevity within just a 2-year treatment period, these positive results compel us to continue pushing for new treatments until we accomplish what we set out to do in 1999. We want children with Progeria to live until they\u2019re 80 and beyond. We want them to live full, healthy lives,\u201d said Dr. Gordon, PRF\u2019s Medical Director and first author of the treatment discovery paper.<\/p>

Record Pace of Progress<\/strong><\/p>

The treatment discovery comes less than a decade after PRF and now National Institutes of Health Director Dr. Francis Collins joined forces to identify the cause of Progeria \u2013 an unheard of timeline in the world of medical research!\u00a0 But for PRF and children with Progeria, who live to an average age of just 13 years, such speed is vital to win this race against time.<\/p>[caption id=\"\" align=\"alignleft\" width=\"250\"]\"\" Mateo, Milagros and Fernando are all smiles upon receiving awards from PRF at their final visit. The trophies say, \u201cYOU DID IT! You finished the 1st Progeria Trial \u2013 You\u2019re A SUPERSTAR!\u201d<\/strong><\/span>[\/caption]

\u201cPRF is a good example of an organization successfully enabling translational research, moving from gene discovery to clinical treatment at an unprecedented pace,\u201d said Dr. Kieran. \u201cFrom 1999, when the organization was founded, to today, PRF has identified the genetic mutation that causes the disease, funded preclinical research, completed this trial, initiated a second trial, and is currently working with our team at Boston Children\u2019s Hospital to plan yet another trial with drugs that, like FTIs, have shown exciting results in Progeria cells and animal models. That\u2019s an awesome track record of accomplishment.\u201d
WE AGREE!<\/strong>How Did We Get to This Wonderful Day?<\/strong>
Following the 2003 discovery of the gene mutation that causes Progeria<\/a>, PRF-funded researchers identified FTIs<\/a> as a potential drug treatment. The Progeria-causing mutation leads to the production of the protein progerin<\/em>, which damages cell function. Part of progerin\u2019s toxic effect on the body is caused by a molecule called a \u201cfarnesyl group,\u201d which attaches to the progerin protein and helps it damage the body\u2019s cells. FTIs act by blocking the attachment of the farnesyl group onto progerin, reducing the harm progerin causes.<\/p>

For more study details, <\/strong>CLICK HERE for the press release<\/strong><\/a><\/p>

Progeria Linked to Normal Aging Process<\/strong>
Research<\/a> shows that the Progeria-causing protein progerin<\/em> is also produced in the general population and increases with age. Researchers plan to continue exploring the effect of FTIs, which may help scientists learn more about the cardiovascular disease that affects millions, as well as the normal aging process that affects us all.<\/p>

\"Connecting this rare disease and normal aging is bearing fruit in an important way...valuable biological insights are gained by studying rare disorders such as Progeria. Our sense from the start was that Progeria had a lot to teach us about the normal aging process.\"<\/p>

- Dr. Francis Collins, Director of the National Institutes of Health<\/p><\/blockquote>[caption id=\"\" align=\"alignright\" width=\"350\"]\"\" What a smile! Maria really enjoyed painting during one of her breaks from testing at Boston Children\u2019s Hospital.<\/strong><\/span>[\/caption]

Help Us Find All Children With Progeria so They, Too, Can Benefit From Our Work<\/strong>
Researchers believe that at any given time, there are 200-250 children living with Progeria. To identify unknown children, PRF launched the \u201cFind the Other 150\u201d<\/a> campaign in October 2009,\u00a0and as of September 2012, we know of 96 children living in 35 countries- an 83% increase!! You can help find more so they can benefit from the unique treatment and care that PRF provides. These new children may be eligible for future clinical trials, so please go to <\/em>Find the other 150<\/em><\/a>\u00a0to find out how you can help make that happen.<\/em><\/p>

What a smile! Maria really enjoyed painting during one
of her breaks from testing at Boston Children\u2019s Hospital.<\/strong><\/span><\/p>

Thank you ALL <\/strong>-<\/strong> We Couldn\u2019t Have Done it Without You!<\/strong><\/a>
One of the main reasons we achieved breakthrough results in this first trial is because of the tremendous supporters who provided funding and other support, helping to get us one step closer to achieving our ultimate goal \u2013 a cure for Progeria. Click here to see a special tribute to all those who helped make the dream<\/em> of a treatment a reality<\/em><\/strong>.<\/p>","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-1684","page","type-page","status-publish","hentry"],"yoast_head":"\ntreatment | The Progeria Research Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.progeriaresearch.org\/it\/first-ever-progeria-treatment\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"treatment | The Progeria Research Foundation\" \/>\n<meta property=\"og:description\" content=\"[et_pb_section fb_built=”1″ _builder_version=”4.16″ global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ background_size=”initial” background_position=”top_left” 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