{"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\/id\/first-ever-progeria-treatment\/","title":{"rendered":"Pengobatan Pertama untuk Progeria"},"content":{"rendered":"

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Sejarah telah tercipta, dengan setiap anak dalam uji klinis obat Progeria pertama yang memperlihatkan perbaikan dalam satu atau lebih area kondisi mereka, membuktikan bahwa obat FTI lonafarnib adalah pengobatan pertama yang diketahui dan efektif untuk anak-anak penderita Progeria.<\/p>\n

Klik di sini untuk mendapatkan salinan gratis dari hasil uji klinis<\/strong><\/a><\/p>\n

\"\"

Megan dan Meghan adalah dua anak pertama yang mendaftar dalam uji coba tersebut. Kedua gadis itu bertemu di Boston setiap empat bulan selama dua tahun, untuk menjalani pengujian, menerima pasokan obat baru, dan bermain bersama! Inilah mereka pada bulan Desember 2008, saat istirahat dari pengujian di Rumah Sakit Anak Boston.<\/strong><\/span><\/p><\/div>\n

UNTUK MEDIA:\u00a0 <\/strong>klik disini<\/a> untuk siaran pers, b-roll, dan rincian pers lainnya.<\/p>\n

Hasil dari <\/strong>uji klinis obat pertama untuk anak-anak<\/strong><\/a> dengan Progeria sudah ada dan resmi!<\/strong>\u00a0 Lonafarnib, sejenis penghambat farnesyltransferase (FTI) yang awalnya dikembangkan untuk mengobati kanker, telah terbukti efektif untuk Progeria. Setiap anak menunjukkan peningkatan dalam satu atau lebih dari empat hal: penambahan berat badan, pendengaran yang lebih baik, peningkatan struktur tulang dan\/atau, yang terpenting, peningkatan fleksibilitas pembuluh darah. Hasil penelitian, yang didanai dan dikoordinasikan oleh The Progeria Research Foundation<\/strong>, diterbitkan pada tanggal 24 September 2012 di Prosiding Akademi Ilmu Pengetahuan Nasional<\/a>.<\/em><\/strong><\/p>\n

Gordon dkk., Uji Klinis Inhibitor Farnesyltransferase pada Anak-anak dengan Sindrom Progeria Hutchinson-Gilford, PNAS, 9 Oktober 2012 vol. 109 no. 41 16666-16671<\/em><\/p>\n

\"\"

Natsuki, dari Jepang, bersama saudara laki-lakinya, ayah, dan ibunya yang menyiapkan campuran pemanis cair lonafarnib.<\/strong><\/span><\/p><\/div>\n

Hasil Menunjukkan Perbaikan pada Semua Anak<\/strong>
Dua puluh delapan anak dari enam belas negara berpartisipasi dalam uji coba obat selama 2 \u00bd tahun, yang mewakili 75 persen kasus Progeria yang diketahui di seluruh dunia pada saat uji coba dimulai. Anak-anak tersebut melakukan perjalanan ke Boston setiap empat bulan untuk menerima pengujian medis yang komprehensif dan mempelajari pengobatan melalui Rumah Sakit Anak Boston. Unit Studi Klinis dan Translasional<\/a>. Semua menerima lonafarnib oral, FTI yang disediakan oleh Merck & Co., dua kali sehari selama dua tahun, di bawah pengawasan ketua uji klinis Mark Kieran, MD, Ph.D., Direktur Neuro-onkologi Medis Pediatrik di Dana-Farber \/ Children's Hospital Cancer Center, dan ketua bersama Dr. Monica Kleinman dan Dr. Leslie Gordon<\/p>\n

Tingkat kenaikan berat badan adalah ukuran hasil utama, karena anak-anak dengan Progeria mengalami kegagalan berat badan yang parah, dengan tingkat kenaikan berat badan linier yang sangat lambat dari waktu ke waktu. Para peneliti memeriksa banyak area tubuh lainnya, termasuk kekakuan arteri (prediktor serangan jantung dan stroke), kekakuan tulang (indikator kekuatan tulang) dan pendengaran. \u201cKetika kami memulai uji klinis ini, kami tidak tahu apakah ada aspek Progeria yang dapat disembuhkan, karena tidak ada yang pernah melakukan uji klinis untuk Progeria sebelumnya. Kami menemukan bahwa, di antara hal-hal lainnya, pembuluh darah utama benar-benar dapat membaik. Ini adalah penemuan terobosan bagi anak-anak, karena penyakit kardiovaskular yang dipercepat adalah penyebab kematian pada Progeria. Meskipun tidak ada cara untuk mengetahui apakah kami telah menunda stroke, serangan jantung, atau meningkatkan umur panjang hanya dalam periode pengobatan 2 tahun, hasil positif ini memaksa kami untuk terus mendorong perawatan baru hingga kami mencapai apa yang kami tetapkan untuk dilakukan pada tahun 1999. Kami ingin anak-anak dengan Progeria hidup hingga mereka berusia 80 tahun dan seterusnya. Kami ingin mereka menjalani hidup yang penuh dan sehat,\u201d kata Dr. Gordon, Direktur Medis PRF dan penulis pertama makalah penemuan pengobatan tersebut.<\/p>\n

Rekor Laju Kemajuan<\/strong><\/p>\n

Penemuan pengobatan ini muncul kurang dari satu dekade setelah PRF dan kini Direktur National Institutes of Health Dr. Francis Collins bekerja sama untuk mengidentifikasi penyebab Progeria \u2013 sebuah rentang waktu yang belum pernah terdengar dalam dunia penelitian medis! Namun bagi PRF dan anak-anak penderita Progeria, yang hidup hingga usia rata-rata hanya 13 tahun, kecepatan tersebut sangat penting untuk memenangkan perlombaan melawan waktu ini.<\/p>\n

\"\"

Mateo, Milagros, dan Fernando tersenyum lebar saat menerima penghargaan dari PRF pada kunjungan terakhir mereka. Piala-piala itu bertuliskan, \u201cANDA BERHASIL! Anda menyelesaikan Uji Coba Progeria pertama \u2013 Anda BINTANG SUPER!\u201d<\/strong><\/span><\/p><\/div>\n

\u201cPRF adalah contoh bagus dari sebuah organisasi yang berhasil memungkinkan penelitian translasional, bergerak dari penemuan gen ke pengobatan klinis dengan kecepatan yang belum pernah terjadi sebelumnya,\u201d kata Dr. Kieran. \u201cSejak tahun 1999, ketika organisasi ini didirikan, hingga saat ini, PRF telah mengidentifikasi mutasi genetik yang menyebabkan penyakit tersebut, mendanai penelitian praklinis, menyelesaikan uji coba ini, memulai uji coba kedua, dan saat ini bekerja dengan tim kami di Rumah Sakit Anak Boston untuk merencanakan uji coba lain dengan obat-obatan yang, seperti FTI, telah menunjukkan hasil yang menarik pada sel Progeria dan model hewan. Itu adalah rekam jejak pencapaian yang mengagumkan.<\/p>\n

KAMI SETUJU! <\/strong>Bagaimana Kita Sampai pada Hari yang Luar Biasa Ini?<\/strong>
Setelah tahun 2003 penemuan mutasi gen penyebab Progeria<\/a>Para peneliti yang didanai PRF mengidentifikasi FTI<\/a> sebagai pengobatan obat yang potensial. Mutasi penyebab Progeria menyebabkan produksi protein progerin<\/em>, yang merusak fungsi sel. Sebagian efek toksik progerin pada tubuh disebabkan oleh molekul yang disebut "kelompok farnesyl," yang menempel pada protein progerin dan membantunya merusak sel-sel tubuh. FTI bekerja dengan menghalangi penempelan kelompok farnesyl pada progerin, sehingga mengurangi bahaya yang disebabkan oleh progerin.<\/p>\n

Untuk detail studi lebih lanjut, <\/strong>KLIK DI SINI untuk siaran pers<\/strong><\/a><\/p>\n

Progeria Terkait dengan Proses Penuaan Normal<\/strong>
Riset<\/a> menunjukkan bahwa protein penyebab Progeria progerin<\/em> juga diproduksi di populasi umum dan meningkat seiring bertambahnya usia. Para peneliti berencana untuk terus meneliti efek FTI, yang dapat membantu para ilmuwan mempelajari lebih lanjut tentang penyakit kardiovaskular yang memengaruhi jutaan orang, serta proses penuaan normal yang memengaruhi kita semua.<\/p>\n

\n

\u201cMenghubungkan penyakit langka ini dengan penuaan normal membuahkan hasil yang penting\u2026 wawasan biologis yang berharga diperoleh dengan mempelajari gangguan langka seperti Progeria. Kami merasa sejak awal bahwa Progeria memiliki banyak hal untuk diajarkan kepada kita tentang proses penuaan normal.\u201d<\/p>\n

\u2013 Dr. Francis Collins, Direktur Institut Kesehatan Nasional<\/p>\n<\/blockquote>\n

\"\"

Sungguh senyum yang menawan! Maria sangat menikmati melukis selama salah satu waktu istirahatnya dari ujian di Rumah Sakit Anak Boston.<\/strong><\/span><\/p><\/div>\n

Bantu Kami Menemukan Semua Anak dengan Progeria agar Mereka Juga Dapat Mendapat Manfaat dari Pekerjaan Kami<\/strong>
Para peneliti percaya bahwa pada suatu waktu, terdapat 200-250 anak yang hidup dengan Progeria. Untuk mengidentifikasi anak-anak yang tidak diketahui, PRF meluncurkan \u201cTemukan 150 Lainnya\u201d<\/a> kampanye pada bulan Oktober 2009, dan hingga September 2012, kami mengetahui ada 96 anak yang tinggal di 35 negara - peningkatan 83%!! Anda dapat membantu menemukan lebih banyak anak sehingga mereka dapat memperoleh manfaat dari perawatan dan pengobatan unik yang disediakan PRF. Anak-anak baru ini mungkin memenuhi syarat untuk uji klinis di masa depan, jadi silakan kunjungi <\/em>Temukan 150 lainnya<\/em><\/a>\u00a0untuk mengetahui bagaimana Anda dapat membantu mewujudkannya.<\/em><\/p>\n

Terima kasih SEMUANYA <\/strong>\u2013<\/strong> Kami Tidak Mungkin Melakukannya Tanpa Anda!<\/strong><\/a>
Salah satu alasan utama kami mencapai hasil terobosan dalam uji coba pertama ini adalah karena para pendukung luar biasa yang menyediakan dana dan dukungan lainnya, membantu kami selangkah lebih dekat untuk mencapai tujuan akhir kami \u2013 penyembuhan Progeria. Klik di sini untuk melihat penghormatan khusus kepada semua orang yang membantu mewujudkannya mimpi<\/em> dari suatu perawatan realitas<\/em><\/strong>.<\/p>\n

[\/et_pb_teks][\/et_pb_kolom][\/et_pb_baris][\/et_pb_bagian]<\/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] Sejarah telah tercipta, dengan setiap anak dalam uji klinis obat Progeria pertama menunjukkan perbaikan di satu atau lebih area kondisi mereka, membuktikan bahwa obat FTI lonafarnib adalah pengobatan pertama yang diketahui dan efektif [\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\/id\/first-ever-progeria-treatment\/\" \/>\n<meta property=\"og:locale\" content=\"id_ID\" \/>\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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