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Junho de 2007: Come\u00e7a o primeiro ensaio cl\u00ednico do medicamento Progeria, com Megan sendo a primeira crian\u00e7a com Progeria a tomar o FTI lonafarnib.<\/p><\/div>\n
Progeria, tamb\u00e9m conhecida como S\u00edndrome de Hutchinson-Gilford Progeria (HGPS), \u00e9 uma doen\u00e7a gen\u00e9tica rara e fatal caracterizada por uma apar\u00eancia de envelhecimento acelerado em crian\u00e7as. Todas as crian\u00e7as com Progeria morrem da mesma doen\u00e7a card\u00edaca que afeta milh\u00f5es de adultos com envelhecimento normal (aterosclerose), mas em vez de ocorrer aos 60 ou 70 anos de idade, essas crian\u00e7as podem sofrer ataques card\u00edacos e derrames j\u00e1 aos 5 anos de idade.<\/p>\n
O estudo, um esfor\u00e7o colaborativo entre a The Progeria Research Foundation, a Brown University, o Hasbro Children's Hospital, a Boston University e o Boston Children's Hospital, come\u00e7ou redefinindo a hist\u00f3ria natural da expectativa de vida de crian\u00e7as com Progeria, rastreando 204 crian\u00e7as, a maioria da popula\u00e7\u00e3o mundial com Progeria, principalmente por meio do registro de pacientes PRF. Uma vez que isso foi alcan\u00e7ado, a compara\u00e7\u00e3o com a expectativa de vida de crian\u00e7as em terapia em ensaios cl\u00ednicos no Boston Children's Hospital mostrou extens\u00e3o da expectativa de vida para as crian\u00e7as tratadas.<\/p>\n
\u201cEste \u00e9 o primeiro estudo a avaliar se os tratamentos influenciam a sobreviv\u00eancia do paciente e, gra\u00e7as a um registro PRF robusto e aos ensaios cl\u00ednicos, pudemos concluir que a extens\u00e3o da expectativa de vida \u00e9 poss\u00edvel para crian\u00e7as com Progeria. Al\u00e9m disso, o estudo fornece par\u00e2metros para avalia\u00e7\u00f5es futuras de mudan\u00e7as na sobreviv\u00eancia com outros tratamentos potenciais para Progeria, \u00e0 medida que continuamos trabalhando para descobrir medicamentos que prolonguem a vida ainda mais\u201d, disse Leslie Gordon, MD, Ph.D., autora principal e correspondente do estudo e diretora m\u00e9dica da PRF. Al\u00e9m disso, o Dr. Gordon \u00e9 cientista da equipe do Boston Children's Hospital e da Harvard Medical School, e professor associado do Hasbro Children's Hospital e da Alpert Medical School da Brown University.<\/p>\n
Primeiro ensaio cl\u00ednico PRF testou FTI Em 2009, a PRF e o National Heart, Lung and Blood Institute cofinanciaram outro teste, adicionando dois medicamentos, pravastatina e zoledronato, ao tratamento FTI. O estudo ainda est\u00e1 em andamento, com resultados atualmente sendo analisados. As 45 crian\u00e7as de 24 pa\u00edses diferentes no ensaio de \u201ctriplo medicamento\u201d<\/a> incluiu crian\u00e7as inscritas no estudo FTI-only. As crian\u00e7as viajam para Boston periodicamente para receber testes m\u00e9dicos abrangentes no Boston Children's Hospital.<\/p>\n Enquanto as crian\u00e7as no estudo foram tratadas com os tr\u00eas medicamentos, o FTI lonafarnib \u00e9 o medicamento ao qual todos os indiv\u00edduos foram expostos, e mostrou benef\u00edcio cardiovascular na Progeria. O estudo conclui que o lonafarnib provavelmente tem a maior influ\u00eancia no aumento da expectativa de vida estimada.<\/p>\n Crian\u00e7as com Progeria t\u00eam uma muta\u00e7\u00e3o gen\u00e9tica que leva \u00e0 produ\u00e7\u00e3o da prote\u00edna progerina, que \u00e9 respons\u00e1vel pela Progeria. A progerina bloqueia a fun\u00e7\u00e3o celular normal e parte de seu efeito t\u00f3xico no corpo \u00e9 causado por uma mol\u00e9cula chamada "grupo farnesil", que se liga \u00e0 prote\u00edna progerina. Os FTIs agem bloqueando a liga\u00e7\u00e3o do grupo farnesil \u00e0 progerina. Os medicamentos FTI lonafarnib, pravastatina, geralmente usados para reduzir o colesterol e prevenir doen\u00e7as cardiovasculares, e \u00e1cido zoledr\u00f4nico, usado para melhorar a resist\u00eancia \u00f3ssea, s\u00e3o todos considerados inibidores de farnesila\u00e7\u00e3o e funcionam de maneiras diferentes.<\/p>\n Avalia\u00e7\u00e3o da Sobreviv\u00eancia Os resultados do estudo mostraram que crian\u00e7as com Progeria recebendo tratamento com lonafarnib tiveram um risco 80% menor de morte em compara\u00e7\u00e3o com a coorte n\u00e3o tratada. No grupo tratado, 5 de 43 crian\u00e7as morreram, em compara\u00e7\u00e3o com 21 de 43 em um grupo de compara\u00e7\u00e3o pareado n\u00e3o tratado, ambos com um acompanhamento m\u00e9dio de 5,3 anos. As crian\u00e7as no grupo de tratamento inclu\u00edam aquelas de diferentes idades, com dura\u00e7\u00f5es variadas de tratamento e em est\u00e1gios variados da doen\u00e7a no in\u00edcio do tratamento. A avalia\u00e7\u00e3o repetida da expectativa de vida ap\u00f3s as crian\u00e7as serem tratadas por um per\u00edodo mais longo ser\u00e1 necess\u00e1ria para avaliar se a expectativa de vida \u00e9 ainda mais estendida com o tratamento de longo prazo.<\/p>\n \u201cEssas descobertas d\u00e3o esperan\u00e7a \u00e0s crian\u00e7as e fam\u00edlias que enfrentam essa doen\u00e7a incur\u00e1vel e fatal. Com o apoio da The Progeria Research Foundation, esses pesquisadores deram mais um passo no processo de encontrar um tratamento e uma cura para essa doen\u00e7a\u201d, disse Elizabeth G. Nabel, presidente do Brigham and Women's Hospital e ex-diretora do National Heart, Lung and Blood Institute. \u201c\u00c0 medida que pesquisas futuras avaliam o impacto que as terapias de redu\u00e7\u00e3o de progerina podem ter, temos o potencial n\u00e3o apenas de descobrir tratamentos eficazes para a Progeria, mas tamb\u00e9m de esclarecer algumas das quest\u00f5es biol\u00f3gicas fundamentais sobre o processo de envelhecimento, incluindo doen\u00e7as card\u00edacas e derrames.\u201d<\/p>\n Progeria associada ao processo normal de envelhecimento Pesquisas anteriores mostram que a progerina tamb\u00e9m \u00e9 produzida na popula\u00e7\u00e3o em geral e aumenta nos vasos sangu\u00edneos com a idade. V\u00e1rios estudos vincularam com sucesso a progerina ao envelhecimento normal, incluindo uma liga\u00e7\u00e3o causal entre a progerina e a instabilidade gen\u00e9tica, especificamente a disfun\u00e7\u00e3o do tel\u00f4mero no processo de envelhecimento. Os pesquisadores planejam continuar explorando o efeito dos FTIs, o que pode ajudar os cientistas a aprender mais sobre doen\u00e7as cardiovasculares na popula\u00e7\u00e3o em geral que afetam milh\u00f5es, bem como o processo normal de envelhecimento<\/p>\n \u201cEsta \u00e9 uma descoberta hist\u00f3rica na nossa busca para melhorar a sa\u00fade e prolongar a vida das crian\u00e7as com Prog\u00e9ria\u201d, disse Audrey Gordon<\/a>, Diretor Executivo da PRF. \u201cContinuamos imensamente gratos aos nossos apoiadores que fornecem financiamento para a pesquisa e os testes de medicamentos que tornam esse progresso poss\u00edvel.\u201d<\/p>\n Sobre a Progeria Research Foundation (PRF) [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":" [et_pb_section fb_built=”1″ _builder_version=”3.22″][et_pb_row _builder_version=”3.25″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.6.5″ background_size=”initial” background_position=”top_left” background_repeat=”repeat” hover_enabled=”0″ sticky_enabled=”0″] STUDY FINDS TRIAL MEDICATIONS INCREASE LIFESPANFOR CHILDREN WITH PROGERIAFirst-Ever Study of Progeria Children Drug Treatments ShowsProtein Farnesylation Inhibition Increased Lifespan BOSTON, MA (May 6, 2014) \u2013 A new study demonstrates there is evidence that a drug originally developed […]<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":" Read our news release here:<\/p> STUDY FINDS TRIAL MEDICATIONS INCREASE LIFESPAN BOSTON, MA (<\/b>May 6, 2014)<\/b> \u2013 A new study demonstrates there is evidence that a drug originally developed to treat cancer can extend the lives of children with Progeria, a rare, fatal \u201crapid-aging\u201d disease, by at least one-and-a-half years, according to The Progeria Research Foundation (PRF). The study, published this month in Circulation <\/i>(Epub ahead of print) showed an extension of mean survival of 1.6 years during the six years following initiation of treatment with a farnesyltransferase inhibitor (FTI). Two additional drugs added later in the trials, pravastatin and zoledronate, may also contribute to this finding. This is the first evidence of treatments influencing survival for this fatal disease.<\/p> The article, \u201cImpact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome,\u201d can be found here<\/a>.<\/p>[caption id=\"\" align=\"alignright\" width=\"175\"] Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. All children with Progeria die of the same heart disease that affects millions of normal aging adults (atherosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer heart attacks and strokes as early as 5 years old.<\/p> The study, a collaborative effort between The Progeria Research Foundation, Brown University, Hasbro Children\u2019s Hospital, Boston University and Boston Children\u2019s Hospital, began by re-defining the natural history of lifespan for children with Progeria, by tracking 204 children, most of the world\u2019s population with Progeria, primarily through the PRF patient registry.\u00a0 Once that was achieved, comparison with lifespan of children on therapy in clinical trials at Boston Children\u2019s Hospital showed extension of lifespan for the treated children.<\/p> \u201cThis is the first study to assess whether treatments influence patient survival, and thanks to a robust PRF registry and the clinical trials, we have been able to conclude that lifespan extension is possible for children with Progeria.\u00a0 \u00a0\u00a0Moreover, the study provides parameters for future assessments of changes in survival with other potential treatments for Progeria, as we continue working to discover drugs that extend life even further,\u201d said Leslie Gordon, M.D., Ph.D., lead and corresponding author of the study, and Medical Director for PRF. In addition, Dr. Gordon is a staff scientist at Boston Children\u2019s Hospital and Harvard Medical School, and Associate Professor at Hasbro Children\u2019s Hospital and Alpert Medical School of Brown University.<\/p> First PRF Clinical Trial Tested FTI In 2009, PRF and the National Heart, Lung and Blood Institute co-funded another trial, adding two drugs, pravastatin and zoledronate, to the FTI treatment. The study is still underway, with results currently being analyzed.\u00a0 The 45 children from 24 different countries in the \u201ctriple drug\u201d trial<\/a> included children enrolled in the FTI-only study. The children travel to Boston periodically to receive comprehensive medical testing at Boston Children\u2019s Hospital.<\/p> While children in the study were treated with the three drugs, the FTI lonafarnib is the drug to which all subjects were exposed, and has shown cardiovascular benefit in Progeria. The study concludes that lonafarnib likely has the largest influence on increased estimated lifespan.<\/p> Children with Progeria have a genetic mutation that leads to the production of the protein progerin, which is responsible for Progeria. Progerin blocks normal cell function and part of its toxic effect on the body is caused by a molecule called a \u201cfarnesyl group,\u201d which attaches to the progerin protein. FTIs act by blocking the attachment of the farnesyl group onto progerin. The drugs FTI lonafarnib, pravastatin, usually used for lowering cholesterol and preventing cardiovascular disease, and zoledronic acid, used to improve bone strength, are all considered farnesylation inhibitors, and work in different ways.<\/p> Evaluation of Survival Study results showed that children with Progeria receiving lonafarnib treatment had an 80 percent lower risk of death compared to the untreated cohort.\u00a0 In the treated group, 5 of 43 children died, compared with 21 of 43 in an untreated matched comparison group, both with a median follow up of 5.3 years. Children in the treatment group included those of different ages, with varying durations of treatment and at varying stages of disease upon treatment initiation.\u00a0 Repeat evaluation of lifespan after children are treated for a longer period of time will be needed to evaluate whether lifespan is further extended with long-term treatment.<\/p> \u201cThese findings give hope to the children and families who face this incurable and fatal disease.\u00a0Through the support of The Progeria Research Foundation, these researchers have taken one more step in the process of finding a treatment and a cure for this disease,\u201d said Elizabeth G. Nabel, President of Brigham and Women\u2019s Hospital, and former Director of the National Heart, Lung and Blood Institute. \u201cAs further research evaluates the impact that progerin-reducing therapies may have, we have the potential to not only discover effective treatments for Progeria, but also to illuminate some of the fundamental biological questions about the aging process, including heart disease and stroke.\u201d<\/p> Progeria Linked to Normal Aging Process Previous research shows that progerin is also produced in the general population and increases in blood vessels with age. A number of studies successfully linked progerin with normal aging, including a causal link between progerin and genetic instability, specifically telomere dysfunction in the aging process. Researchers plan to continue exploring the effect of FTIs, which may help scientists learn more about cardiovascular disease in the general population that affects millions, as well as the normal aging process<\/p> \u201cThis is an historic finding in our quest to improve health and extend the lives of children with Progeria,\u201d said Audrey Gordon<\/a>, Executive Director of PRF. \u201cWe continue to be immeasurably grateful to our supporters who provide funding for the research and drug trials that make such progress possible.\u201d<\/p> About The Progeria Research Foundation (PRF)
<\/b>A PRF patrocinou uma estudo inicial de tratamento com Progeria<\/a> em 2007 com 28 crian\u00e7as de 13 pa\u00edses. O tratamento consistiu no FTI lonafarnib, fornecido pela Merck & Co., sob a supervis\u00e3o do pesquisador principal Mark Kieran, MD, Ph.D., diretor de neuro-oncologia m\u00e9dica pedi\u00e1trica no Dana-Farber\/Children's Hospital Cancer Center. As crian\u00e7as no estudo mostraram melhora na capacidade de ganhar peso adicional, maior flexibilidade dos vasos sangu\u00edneos ou melhor estrutura \u00f3ssea, todas as condi\u00e7\u00f5es impactadas pela Progeria.<\/p>\n
<\/b>Para avaliar como o tratamento impactou a sobreviv\u00eancia entre as crian\u00e7as com Progeria no estudo, os pesquisadores primeiro analisaram uma popula\u00e7\u00e3o de Progeria n\u00e3o tratada para compara\u00e7\u00e3o. Usando registros do The Progeria Research Foundation International Registry, artigos de not\u00edcias cient\u00edficas publicados e bancos de dados dispon\u00edveis publicamente, cada crian\u00e7a no teste de tratamento foi pareada com uma crian\u00e7a n\u00e3o tratada do mesmo sexo, do mesmo continente e que estava viva quando a crian\u00e7a tratada come\u00e7ou o tratamento.<\/p>\n
<\/b>Em um editorial que acompanha o Circula\u00e7\u00e3o<\/i> artigo, os Drs. Junko Oshima, Fuki M. Hisama e George M. Martin observam que as observa\u00e7\u00f5es no estudo levantam uma quest\u00e3o importante sobre at\u00e9 que ponto a progerina \u2013 uma prote\u00edna envolvida na Progeria \u2013 est\u00e1 associada ao envelhecimento e a dist\u00farbios relacionados \u00e0 idade, como a aterog\u00eanese. Os autores do editorial, \u201cUm Relat\u00f3rio de Progresso Encorajador sobre o Tratamento da Progeria e suas Implica\u00e7\u00f5es para a Aterog\u00eanese\u201d, elogiaram a PRF por liderar os esfor\u00e7os de pesquisa nesta \u00e1rea.<\/p>\n
<\/b>Funda\u00e7\u00e3o de Pesquisa Progeria (PRF)<\/b><\/a> foi criada em 1999 para encontrar a causa, o tratamento e a cura para a Progeria \u2013 uma doen\u00e7a de envelhecimento r\u00e1pido que faz com que crian\u00e7as morram de doen\u00e7a card\u00edaca ou derrame em uma idade m\u00e9dia de 13 anos. Nos \u00faltimos 15 anos, a pesquisa conduzida em parceria com a PRF identificou o gene que causa a Progeria e o primeiro tratamento medicamentoso. A PRF continua a identificar mais crian\u00e7as que podem se beneficiar dos programas e servi\u00e7os que ela fornece, ao mesmo tempo em que ajuda a avan\u00e7ar a pesquisa em dire\u00e7\u00e3o ao tratamento e \u00e0 cura. Para saber mais sobre a Progeria e o que voc\u00ea pode fazer para ajudar, visite www.progeriaresearch.org<\/a>.<\/p>\n
<\/b>FOR CHILDREN WITH PROGERIA
<\/b>First-Ever Study of Progeria Children Drug Treatments Shows
<\/i>Protein Farnesylation Inhibition Increased Lifespan<\/i><\/p> June 2007: The 1st-ever Progeria clinical drug trial begins, with Megan being the first child with Progeria to take the FTI lonafarnib.[\/caption]
<\/b>PRF sponsored an initial Progeria treatment study<\/a> in 2007 with 28 children from 13 countries.\u00a0 Treatment consisted of the FTI lonafarnib, supplied by Merck & Co., under the supervision of principal investigator Mark Kieran, M.D., Ph.D., director of pediatric medical neuro-oncology at the Dana-Farber\/Children\u2019s Hospital Cancer Center. Children in the study showed improvement in an ability to gain additional weight, increased flexibility of blood vessels or improved bone structure, all conditions impacted by Progeria.<\/p>
<\/b>To evaluate how the treatment impacted survival among the children with Progeria in the study, researchers first analyzed an untreated Progeria population for comparison. Using records from The Progeria Research Foundation International Registry, published scientific news articles and publicly available databases, each child in the treatment trial was matched with an untreated child of the same gender, from the same continent, and who was alive when the treated child began treatment.<\/p>
<\/b>In an editorial accompanying the Circulation<\/i> paper, Drs. Junko Oshima, Fuki M. Hisama and George M. Martin note the observations in the\u00a0 study raise an important question about the extent to which progerin \u2013 a protein involved in Progeria \u2013 is associated with aging and age-related disorders such as atherogenesis. The authors of the editorial, \u201cAn Encouraging Progress Report on the Treatment of Progeria and its Implications for Atherogenesis,\u201d praised PRF for leading research efforts in this area.<\/p>
<\/b>The Progeria Research Foundation (PRF)<\/b><\/a> was established in 1999 to find the cause, treatment and cure for Progeria \u2013 a rapid aging disease that causes children to die from heart disease or stroke at an average age of 13 years.\u00a0 In the past 15 years, research conducted in partnership with PRF has identified the gene that causes Progeria, and the first-ever drug treatment.\u00a0 PRF continues to identify more children who can benefit from the programs and services that it provides while helping advance research towards treatment and cure.\u00a0 To learn more about Progeria and what you can do to help, please visit www.progeriaresearch.org<\/a>.<\/p>","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-1992","post","type-post","status-publish","format-standard","hentry","category-news"],"yoast_head":"\n