{"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\/pt\/first-ever-progeria-treatment\/","title":{"rendered":"Primeiro tratamento para progeria"},"content":{"rendered":"<p>[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]<\/p>\n<p>A hist\u00f3ria foi feita, com todas as crian\u00e7as no primeiro ensaio cl\u00ednico do medicamento Prog\u00e9ria apresentando melhora em uma ou mais \u00e1reas de sua condi\u00e7\u00e3o, provando que o medicamento FTI lonafarnib \u00e9 o primeiro tratamento conhecido e eficaz para crian\u00e7as com Prog\u00e9ria.<\/p>\n<p><a href=\"https:\/\/www.pnas.org\/content\/109\/41\/16666\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Clique aqui para obter uma c\u00f3pia gratuita do artigo sobre os resultados do ensaio cl\u00ednico<\/strong><\/a><\/p>\n<div style=\"width: 310px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/photo.jpg\" alt=\"\" width=\"300\" height=\"205\" \/><p class=\"wp-caption-text\"><span style=\"font-size: 8pt;\"><strong>Megan e Meghan foram as duas primeiras crian\u00e7as a se inscreverem no teste. As duas meninas se encontraram em Boston a cada quatro meses por dois anos, para fazer testes, receber novos suprimentos de medicamentos e brincar juntas! Aqui est\u00e3o elas em dezembro de 2008, em uma pausa dos testes no Hospital Infantil de Boston.<\/strong><\/span><\/p><\/div>\n<p><strong>PARA A M\u00cdDIA:\u00a0 <\/strong><a href=\"https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/FINAL-PNAS-Press-Release.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Clique aqui<\/a> para o press release, b-roll e outros detalhes de imprensa.<\/p>\n<p><strong>Os resultados de <\/strong><a href=\"https:\/\/www.progeriaresearch.org\/pt\/clinical-trials\/\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>o primeiro ensaio cl\u00ednico de medicamentos para crian\u00e7as<\/strong><\/a><strong> com Progeria est\u00e3o dispon\u00edveis e \u00e9 oficial!<\/strong>\u00a0 Lonafarnib, um tipo de inibidor de farnesiltransferase (FTI) originalmente desenvolvido para tratar c\u00e2ncer, provou ser eficaz para Progeria. Cada crian\u00e7a que mostra melhora em uma ou mais das quatro maneiras: ganho de peso adicional, melhor audi\u00e7\u00e3o, estrutura \u00f3ssea melhorada e\/ou, mais importante, maior flexibilidade dos vasos sangu\u00edneos. Resultados do estudo, que foi <strong>financiado e coordenado pela The Progeria Research Foundation<\/strong>, foram publicados em 24 de setembro de 2012 em <strong><em><a href=\"https:\/\/www.pnas.org\/content\/109\/41\/16666\" target=\"_blank\" rel=\"noopener noreferrer\">Anais da Academia Nacional de Ci\u00eancias<\/a>.<\/em><\/strong><\/p>\n<p><em>Gordon et. al., Ensaio cl\u00ednico de um inibidor de farnesiltransferase em crian\u00e7as com s\u00edndrome de Hutchinson-Gilford Progeria, PNAS, 9 de outubro de 2012 vol. 109 no. 41 16666-16671<\/em><\/p>\n<div style=\"width: 297px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"alignright\" src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/Natsuki-family-drug-prep.jpg\" alt=\"\" width=\"287\" height=\"210\" \/><p class=\"wp-caption-text\"><span style=\"font-size: 8pt;\"><strong>Natsuki, do Jap\u00e3o, com seu irm\u00e3o, pai e m\u00e3e que preparam a mistura de lonafarnib e ado\u00e7ante l\u00edquido.<\/strong><\/span><\/p><\/div>\n<p style=\"text-align: left;\"><strong>Resultados produzem melhorias em todas as crian\u00e7as<\/strong><br \/>Vinte e oito crian\u00e7as de dezesseis pa\u00edses participaram do teste de medicamentos de 2 anos e meio, representando 75 por cento dos casos conhecidos de Progeria em todo o mundo na \u00e9poca em que o teste come\u00e7ou. As crian\u00e7as viajavam para Boston a cada quatro meses para receber testes m\u00e9dicos abrangentes e estudar medicamentos por meio do Boston Children&#039;s Hospital&#039;s <a href=\"https:\/\/www.childrenshospital.org\/research\/clinical-research\/icctr\" target=\"_blank\" rel=\"noopener noreferrer\">Unidade de Estudos Cl\u00ednicos e Translacionais<\/a>. Todos receberam lonafarnib oral, um FTI fornecido pela Merck &amp; Co., duas vezes ao dia durante dois anos, sob a supervis\u00e3o do presidente do ensaio cl\u00ednico Mark Kieran, MD, Ph.D., Diretor de Neuro-oncologia M\u00e9dica Pedi\u00e1trica no Dana-Farber \/ Children&#039;s Hospital Cancer Center, e dos copresidentes Dra. Monica Kleinman e Dra. Leslie Gordon<\/p>\n<p style=\"text-align: left;\">A taxa de ganho de peso foi a principal medida de resultado, porque crian\u00e7as com Progeria apresentam grave falha de desenvolvimento, com uma taxa linear muito lenta de ganho de peso ao longo do tempo. Os pesquisadores examinaram muitas outras \u00e1reas do corpo, incluindo rigidez arterial (um preditor de ataque card\u00edaco e derrame), rigidez \u00f3ssea (um indicador de resist\u00eancia \u00f3ssea) e audi\u00e7\u00e3o. &quot;Quando iniciamos este ensaio cl\u00ednico, n\u00e3o t\u00ednhamos ideia se algum aspecto da Progeria seria revers\u00edvel, porque ningu\u00e9m jamais havia conduzido um ensaio cl\u00ednico de tratamento para Progeria antes. Descobrimos que, entre outras coisas, os principais vasos sangu\u00edneos podem realmente melhorar. Esta foi uma descoberta revolucion\u00e1ria para as crian\u00e7as, uma vez que a doen\u00e7a cardiovascular acelerada \u00e9 a causa da morte na Progeria. Embora n\u00e3o haja como saber se retardamos derrames, ataques card\u00edacos ou aumentamos a longevidade em apenas um per\u00edodo de tratamento de 2 anos, esses resultados positivos nos obrigam a continuar pressionando por novos tratamentos at\u00e9 que alcancemos o que nos propusemos a fazer em 1999. Queremos que as crian\u00e7as com Progeria vivam at\u00e9 os 80 anos e mais. Queremos que eles tenham uma vida plena e saud\u00e1vel\u201d, disse o Dr. Gordon, Diretor M\u00e9dico da PRF e primeiro autor do artigo sobre a descoberta do tratamento.<\/p>\n<p><strong>Ritmo recorde de progresso<\/strong><\/p>\n<p style=\"text-align: justify;\">A descoberta do tratamento ocorre menos de uma d\u00e9cada ap\u00f3s a PRF e agora o diretor do National Institutes of Health, Dr. Francis Collins, unirem for\u00e7as para identificar a causa da Progeria \u2013 um cronograma in\u00e9dito no mundo da pesquisa m\u00e9dica! Mas para a PRF e as crian\u00e7as com Progeria, que vivem at\u00e9 uma idade m\u00e9dia de apenas 13 anos, essa velocidade \u00e9 vital para vencer essa corrida contra o tempo.<\/p>\n<div style=\"width: 260px\" class=\"wp-caption alignleft\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/mateoMilagorsFernando.jpg\" alt=\"\" width=\"250\" height=\"194\" \/><p class=\"wp-caption-text\"><span style=\"font-size: 8pt;\"><strong>Mateo, Milagros e Fernando est\u00e3o todos sorridentes ao receber pr\u00eamios da PRF em sua visita final. Os trof\u00e9us dizem: &quot;VOC\u00ca CONSEGUIU! Voc\u00ea terminou o 1\u00ba Progeria Trial \u2013 Voc\u00ea \u00e9 UM SUPERSTAR!&quot;<\/strong><\/span><\/p><\/div>\n<p>\u201cA PRF \u00e9 um bom exemplo de uma organiza\u00e7\u00e3o que permite com sucesso a pesquisa translacional, passando da descoberta gen\u00e9tica para o tratamento cl\u00ednico em um ritmo sem precedentes\u201d, disse o Dr. Kieran. \u201cDe 1999, quando a organiza\u00e7\u00e3o foi fundada, at\u00e9 hoje, a PRF identificou a muta\u00e7\u00e3o gen\u00e9tica que causa a doen\u00e7a, financiou a pesquisa pr\u00e9-cl\u00ednica, concluiu este teste, iniciou um segundo teste e est\u00e1 atualmente trabalhando com nossa equipe no Boston Children&#039;s Hospital para planejar mais um teste com medicamentos que, como os FTIs, mostraram resultados empolgantes em c\u00e9lulas de Progeria e modelos animais. Esse \u00e9 um hist\u00f3rico incr\u00edvel de realiza\u00e7\u00f5es.<\/p>\n<p><strong>CONCORDAMOS! <\/strong><strong>Como chegamos a esse dia maravilhoso?<\/strong><br \/>Ap\u00f3s 2003 <a href=\"https:\/\/www.progeriaresearch.org\/pt\/2003\/04\/16\/progeria-gene-discovered\/\">descoberta da muta\u00e7\u00e3o gen\u00e9tica que causa a Prog\u00e9ria<\/a>, pesquisadores financiados pela PRF identificaram <a href=\"https:\/\/www.progeriaresearch.org\/pt\/assets\/files\/pdf\/FTIQ&amp;AAugust2006Final.pdf\/\">FTIs<\/a> como um potencial tratamento medicamentoso. A muta\u00e7\u00e3o causadora da Progeria leva \u00e0 produ\u00e7\u00e3o da prote\u00edna <em>progerina<\/em>, que danifica a fun\u00e7\u00e3o celular. Parte do efeito t\u00f3xico da progerina no corpo \u00e9 causado por uma mol\u00e9cula chamada \u201cgrupo farnesil\u201d, que se liga \u00e0 prote\u00edna progerina e a ajuda a danificar as c\u00e9lulas do corpo. Os FTIs agem bloqueando a liga\u00e7\u00e3o do grupo farnesil \u00e0 progerina, reduzindo os danos que a progerina causa.<\/p>\n<p><strong>Para mais detalhes do estudo, <\/strong><a href=\"https:\/\/www.progeriaresearch.org\/pt\/assets\/files\/pdf\/FINAL%20PNAS%20Press%20Release.pdf\/\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>CLIQUE AQUI para o comunicado de imprensa<\/strong><\/a><\/p>\n<p><strong>Progeria associada ao processo normal de envelhecimento<\/strong><a href=\"https:\/\/www.progeriaresearch.org\/pt\/whats-new-in-progeria-research\/\" target=\"_blank\" rel=\"noopener noreferrer\"><br \/>Pesquisar<\/a> mostra que a prote\u00edna causadora da Prog\u00e9ria <em>progerina<\/em> tamb\u00e9m \u00e9 produzido na popula\u00e7\u00e3o em geral e aumenta com a idade. Os pesquisadores planejam continuar explorando o efeito dos FTIs, o que pode ajudar os cientistas a aprender mais sobre a doen\u00e7a cardiovascular que afeta milh\u00f5es, bem como o processo normal de envelhecimento que afeta a todos n\u00f3s.<\/p>\n<blockquote>\n<p>\u201cConectar essa doen\u00e7a rara e o envelhecimento normal est\u00e1 dando frutos de uma forma importante\u2026 insights biol\u00f3gicos valiosos s\u00e3o obtidos ao estudar doen\u00e7as raras como a Progeria. Nossa sensa\u00e7\u00e3o desde o in\u00edcio era que a Progeria tinha muito a nos ensinar sobre o processo normal de envelhecimento.\u201d<\/p>\n<p>\u2013 Dr. Francis Collins, Diretor dos Institutos Nacionais de Sa\u00fade<\/p>\n<\/blockquote>\n<div style=\"width: 360px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/Maria-Painting.jpg\" alt=\"\" width=\"350\" height=\"189\" \/><p class=\"wp-caption-text\"><span style=\"font-size: 8pt;\"><strong>Que sorriso! Maria realmente gostou de pintar durante uma das suas pausas de testes no Hospital Infantil de Boston.<\/strong><\/span><\/p><\/div>\n<p><strong>Ajude-nos a encontrar todas as crian\u00e7as com progeria para que elas tamb\u00e9m possam se beneficiar do nosso trabalho<\/strong><br \/>Os pesquisadores acreditam que, a qualquer momento, h\u00e1 200-250 crian\u00e7as vivendo com Progeria. Para identificar crian\u00e7as desconhecidas, a PRF lan\u00e7ou o <a href=\"https:\/\/www.progeriaresearch.org\/pt\/find-the-children\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u201cEncontre os outros 150\u201d<\/a> em outubro de 2009, e em setembro de 2012, sabemos de 96 crian\u00e7as vivendo em 35 pa\u00edses - um aumento de 83%!! Voc\u00ea pode ajudar a encontrar mais para que elas possam se beneficiar do tratamento e cuidado exclusivos que a PRF fornece. <em>Essas novas crian\u00e7as podem ser eleg\u00edveis para futuros ensaios cl\u00ednicos, ent\u00e3o, por favor, acesse <\/em><a href=\"https:\/\/www.progeriaresearch.org\/pt\/find-the-children\/\" target=\"_blank\" rel=\"noopener noreferrer\"><em>Encontre os outros 150<\/em><\/a><em>\u00a0para descobrir como voc\u00ea pode ajudar a fazer isso acontecer.<\/em><\/p>\n<p><a href=\"https:\/\/www.progeriaresearch.org\/pt\/2012\/05\/16\/a-special-thank-you\/\"><strong>Obrigado a TODOS <\/strong><strong>\u2013<\/strong> <strong>N\u00e3o ter\u00edamos conseguido sem voc\u00ea!<\/strong><\/a><br \/>Uma das principais raz\u00f5es pelas quais alcan\u00e7amos resultados inovadores neste primeiro teste \u00e9 por causa dos tremendos apoiadores que forneceram financiamento e outro suporte, ajudando-nos a chegar um passo mais perto de atingir nosso objetivo final \u2013 uma cura para a Prog\u00e9ria. Clique aqui para ver uma homenagem especial a todos aqueles que ajudaram a tornar o <em>sonhar<\/em> de um tratamento a <strong><em>realidade<\/em><\/strong>.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":"<p>[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] A hist\u00f3ria foi feita: todas as crian\u00e7as participantes do primeiro ensaio cl\u00ednico com um medicamento para Progeria apresentaram melhora em uma ou mais \u00e1reas de sua condi\u00e7\u00e3o, comprovando que o medicamento lonafarnib, da FTI, \u00e9 o primeiro tratamento eficaz conhecido [\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":"<p>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><p><a href=\"https:\/\/web-beta.archive.org\/web\/20160518205005\/https:\/\/www.pnas.org\/content\/109\/41\/16666\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Click here for your free copy of the clinical trial results paper<\/strong><\/a><\/p>[caption id=\"\" align=\"alignleft\" width=\"300\"]<img src=\"https:\/\/web-beta.archive.org\/web\/20170216095030im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/photo.jpg\" alt=\"\" width=\"300\" height=\"205\" \/> <span style=\"font-size: 8pt;\"><strong>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]<p><strong>FOR MEDIA:\u00a0 <\/strong><a href=\"https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/FINAL-PNAS-Press-Release.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">click here<\/a> for the press release, b-roll and other press details.<\/p><p><strong>The results of <\/strong><a href=\"https:\/\/www.progeriaresearch.org\/clinical-trials\/\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>the first-ever clinical drug trial for children<\/strong><\/a><strong> 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 <strong>funded and coordinated by The Progeria Research Foundation<\/strong>, were published September 24, 2012 in <strong><em><a href=\"https:\/\/web-beta.archive.org\/web\/20160518205005\/https:\/\/www.pnas.org\/content\/109\/41\/16666\" target=\"_blank\" rel=\"noopener noreferrer\">Proceedings of the National Academy of Sciences<\/a>.<\/em><\/strong><\/p><p><em>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\"]<img class=\"alignleft\" src=\"https:\/\/web-beta.archive.org\/web\/20170216095030im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/Natsuki-family-drug-prep.jpg\" alt=\"\" width=\"287\" height=\"210\" \/> <span style=\"font-size: 8pt;\"><strong>Natsuki, from Japan, with her brother, father and mother who prepares the lonafarnib-liquid sweetener mixture.<\/strong><\/span>[\/caption]<p style=\"text-align: left;\"><strong>Results Yield Improvements in All Children<\/strong><br \/>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 <a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.childrenshospital.org\/cfapps\/research\/data_admin\/Site2734\/mainpageS2734P103.html\" target=\"_blank\" rel=\"noopener noreferrer\">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 <a href=\"https:\/\/www.childrenshospital.org\/researchers\/mark-kieran\" target=\"_blank\" rel=\"noopener noreferrer\">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 <a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/volunteer-board.html#MKleinman\">Dr. Monica Kleinman<\/a> and <a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/officersandstaff.html\">Dr. Leslie Gordon<\/a><\/p><p style=\"text-align: left;\">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><p><strong>Record Pace of Progress<\/strong><\/p><p style=\"text-align: justify;\">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\"]<img src=\"https:\/\/web-beta.archive.org\/web\/20170216095030im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/mateoMilagorsFernando.jpg\" alt=\"\" width=\"250\" height=\"194\" \/> <span style=\"font-size: 8pt;\"><strong>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]<p>\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 <strong><br \/>WE AGREE!<\/strong><strong>How Did We Get to This Wonderful Day?<\/strong><br \/>Following the 2003 <a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/progeria_gene_discovered.html\">discovery of the gene mutation that causes Progeria<\/a>, PRF-funded researchers identified <a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/FTIQ&AAugust2006Final.pdf\">FTIs<\/a> as a potential drug treatment. The Progeria-causing mutation leads to the production of the protein <em>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><p><strong>For more study details, <\/strong><a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/FINAL%20PNAS%20Press%20Release.pdf\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>CLICK HERE for the press release<\/strong><\/a><\/p><p><strong>Progeria Linked to Normal Aging Process<\/strong><a href=\"https:\/\/web-beta.archive.org\/web\/20170128050324\/https:\/\/www.progeriaresearch.org\/whats_new_in_progeria_research.html#2\" target=\"_blank\" rel=\"noopener noreferrer\"><br \/>Research<\/a> shows that the Progeria-causing protein <em>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><blockquote><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><p>- Dr. Francis Collins, Director of the National Institutes of Health<\/p><\/blockquote>[caption id=\"\" align=\"alignright\" width=\"350\"]<img src=\"https:\/\/web-beta.archive.org\/web\/20170216095030im_\/https:\/\/www.progeriaresearch.org\/assets\/images\/news_images\/Maria-Painting.jpg\" alt=\"\" width=\"350\" height=\"189\" \/> <span style=\"font-size: 8pt;\"><strong>What a smile! Maria really enjoyed painting during one of her breaks from testing at Boston Children\u2019s Hospital.<\/strong><\/span>[\/caption]<p><strong>Help Us Find All Children With Progeria so They, Too, Can Benefit From Our Work<\/strong><br \/>Researchers believe that at any given time, there are 200-250 children living with Progeria. To identify unknown children, PRF launched the <a href=\"https:\/\/www.progeriaresearch.org\/find-the-other-150\/\" target=\"_blank\" rel=\"noopener noreferrer\">\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. <em>These new children may be eligible for future clinical trials, so please go to <\/em><a href=\"https:\/\/www.progeriaresearch.org\/find-the-other-150\/\" target=\"_blank\" rel=\"noopener noreferrer\"><em>Find the other 150<\/em><\/a><em>\u00a0to find out how you can help make that happen.<\/em><\/p><p><span style=\"font-size: 10pt;\"><strong>What a smile! Maria really enjoyed painting during one<br \/>of her breaks from testing at Boston Children\u2019s Hospital.<\/strong><\/span><\/p><p><a href=\"https:\/\/web-beta.archive.org\/web\/20170216095030\/https:\/\/www.progeriaresearch.org\/a-special-thank-you.html\"><strong>Thank you ALL <\/strong><strong>-<\/strong> <strong>We Couldn\u2019t Have Done it Without You!<\/strong><\/a><br \/>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 <em>dream<\/em> of a treatment a <strong><em>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":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>treatment | 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\/pt\/first-ever-progeria-treatment\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\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=&#8221;1&#8243; _builder_version=&#8221;4.16&#8243; global_colors_info=&#8221;{}&#8221;][et_pb_row _builder_version=&#8221;4.16&#8243; background_size=&#8221;initial&#8221; background_position=&#8221;top_left&#8221; background_repeat=&#8221;repeat&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.16&#8243; custom_padding=&#8221;|||&#8221; global_colors_info=&#8221;{}&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text _builder_version=&#8221;4.16&#8243; background_size=&#8221;initial&#8221; background_position=&#8221;top_left&#8221; background_repeat=&#8221;repeat&#8221; global_colors_info=&#8221;{}&#8221;] 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 [&hellip;]\" \/>\n<meta property=\"og:url\" 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