{"id":8368,"date":"2024-07-03T15:45:49","date_gmt":"2024-07-03T15:45:49","guid":{"rendered":"https:\/\/www.lgmd-info.org\/?page_id=8368"},"modified":"2026-04-20T19:22:32","modified_gmt":"2026-04-20T19:22:32","slug":"lgmd-milestones-a-decade-of-difference","status":"publish","type":"page","link":"https:\/\/www.lgmd-info.org\/tr\/knowledge-base\/lgmd-milestones-a-decade-of-difference\/","title":{"rendered":"LGMD Milestones – Over a Decade of Difference"},"content":{"rendered":"

Limb-Girdle Muscular Dystrophy (LGMD) ile m\u00fccadelede on y\u0131ll\u0131k etkili d\u00f6n\u00fcm noktalar\u0131n\u0131 ke\u015ffedin. \u00c7\u0131\u011f\u0131r a\u00e7an genetik dizileme ve fark\u0131ndal\u0131k kampanyalar\u0131ndan uluslararas\u0131 konferanslara ve klinik \u00e7al\u0131\u015fmalara kadar, LGMD'den etkilenenlerin ya\u015famlar\u0131n\u0131 iyile\u015ftirmeye y\u00f6nelik \u00f6nemli geli\u015fmeleri ve devam eden \u00e7abalar\u0131 ke\u015ffedin.<\/h4><\/div><\/div><\/div><\/div><\/div>

2014<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>

2014 y\u0131l\u0131nda \u00fccretsiz yeni nesil genetik dizileme<\/strong> LGMD'ler (35 gen) i\u00e7in bir LGMD savunuculuk program\u0131 arac\u0131l\u0131\u011f\u0131yla ABD'li hastalara sunulmu\u015f ve binlerce \u00fccretsiz test ve genetik te\u015fhis ile sonu\u00e7lanm\u0131\u015ft\u0131r.<\/p>\n<\/div>

<\/div><\/div>
\"2014<\/span><\/div>

LGMD-Info.org,<\/strong> ve \"LGMD toplulu\u011fu i\u00e7in Bilgi Merkezi\"<\/strong> yarat\u0131ld\u0131.<\/p>\n<\/div>

<\/div><\/div>
\"2014<\/span><\/div>

Bu LGMD i\u00e7in Kire\u00e7 Ye\u015fili<\/strong> fark\u0131ndal\u0131k kampanyas\u0131 ba\u015flat\u0131ld\u0131 ve imza rengimiz olmaya devam ediyor.<\/p>\n<\/div>

<\/div><\/div>
\"2014<\/span><\/div>

Bu Disferlinopati i\u00e7in Klinik Sonu\u00e7 \u00c7al\u0131\u015fmas\u0131<\/strong> (COS) ger\u00e7ekle\u015ftirilmi\u015f ve hastal\u0131\u011f\u0131n anla\u015f\u0131lmas\u0131 i\u00e7in \u00f6nemli bir uluslararas\u0131 \u00e7aba g\u00f6sterilmi\u015ftir.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2015<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2015awarenessday\"<\/span><\/div>

\u0130lk olarak LGMD Fark\u0131ndal\u0131k G\u00fcn\u00fc<\/strong><\/a> 30 Eyl\u00fcl 2015 tarihinde kutland\u0131.<\/p>\n<\/div>

<\/div><\/div>
\"2015<\/a><\/div><\/div>
\"2015<\/a><\/div><\/div>
\"2015<\/a><\/div><\/div>
\"2015<\/a><\/div><\/div>
<\/div><\/div><\/div>

\u0130lk olarak eyalet bi\u0307ldi\u0307ri\u0307leri\u0307<\/strong> Wisconsin, Washington, Missouri ve Colorado'da 30 Eyl\u00fcl'\u00fc Limb-Girdle Musk\u00fcler Distrofi Fark\u0131ndal\u0131k G\u00fcn\u00fc olarak ilan etti.<\/p>\n<\/div>

<\/div><\/div>
\"Jainfoundation\"<\/span><\/div>

Bu Dysferlin Bilimsel Konferans\u0131<\/strong> Kanada'n\u0131n Toronto kentinde d\u00fczenlenen etkinlikte ara\u015ft\u0131rmac\u0131lar, klinisyenler ve end\u00fcstri uzmanlar\u0131 bir t\u00fcr Limb-Girdle Musk\u00fcler Distrofi olan disferlinopatinin incelenmesi ve tedavisine ili\u015fkin i\u00e7g\u00f6r\u00fc ve geli\u015fmeleri payla\u015ft\u0131.<\/p>\n<\/div>

<\/div><\/div>

Bu 2B G\u00fc\u00e7lendirilmi\u015f Hasta Konferans\u0131<\/strong> Dallas, Teksas'ta d\u00fczenlenen etkinlik, Limb-Girdle Musk\u00fcler Distrofi hastalar\u0131n\u0131n ba\u011flant\u0131 kurmalar\u0131, deneyimlerini payla\u015fmalar\u0131 ve alan\u0131ndaki uzmanlardan de\u011ferli bilgiler edinmeleri i\u00e7in bir platform sa\u011flad\u0131.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2016<\/h2><\/div><\/div><\/div>
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\"2016<\/span><\/div>

2016'da, 219. ENMC Uluslararas\u0131 Titinopatiler \u00c7al\u0131\u015ftay\u0131:<\/strong> Hollanda'n\u0131n Heemskerk kentinde titin mutasyonlar\u0131 ve fenotipleri \u00fczerine uluslararas\u0131 bir veri taban\u0131 d\u00fczenlendi.<\/p>\n<\/div>

<\/div><\/div>
\"2016<\/span><\/div>

Bu Samantha J. Brazzo Vakf\u0131<\/strong> yeniden markala\u015ft\u0131 CureLGMD2i<\/strong><\/a>. Bu de\u011fi\u015fiklik, vakf\u0131n Limb-Girdle Muscular Dystrophy Type 2i (LGMD2i) i\u00e7in bir tedavi bulmaya odakland\u0131\u011f\u0131n\u0131 yans\u0131tmaktad\u0131r.<\/p>\n<\/div>

CureLGMD2i ve LGMD2i Ara\u015ft\u0131rma Fonu, LGMD2I\/R9'da ilk kez ger\u00e7ekle\u015ftirilen klinik \u00e7al\u0131\u015fmay\u0131 destekledi. \"LGMD2I'li Ambulatuvar Kat\u0131l\u0131mc\u0131larda PF-06252616 Denemesi,\"<\/strong> Dr. Kathryn Wagner taraf\u0131ndan y\u00f6netilmektedir.<\/p>\n<\/div>

<\/div><\/div>
\"2016<\/span><\/div>

Dysferlin Kayd\u0131<\/strong> \u00f6zellikle genetik olarak do\u011frulanm\u0131\u015f disferlinopatisi olan hastalar i\u00e7in yeni bir platform ba\u015flatt\u0131.<\/p>\n<\/div>

<\/div><\/div>

\u00c7ift vekt\u00f6r gen terapisi<\/strong> \u00f6zellikle Limb-Girdle Musk\u00fcler Distrofi Tipini hedefleyen disferlinopati i\u00e7in FDA'dan Ara\u015ft\u0131rma Ama\u00e7l\u0131 Yeni \u0130la\u00e7 (IND) ba\u015fvurusu i\u00e7in onay ald\u0131.<\/p>\n<\/div>

<\/div><\/div>

\u0130kincisi 2B G\u00fc\u00e7lendirilmi\u015f Hasta Konferans\u0131<\/strong> Dallas, Teksas'ta ger\u00e7ekle\u015fti.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2017<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2017myonexuslogo\"<\/span><\/div>

Myonexus Therapeutics<\/strong> Limb-Girdle Muscular Dystrophy'nin (LGMD) be\u015f alt t\u00fcr\u00fcn\u00fc tedavi etmek i\u00e7in gen terapileri geli\u015ftirmek \u00fczere 2017 y\u0131l\u0131nda kurulmu\u015ftur: LGMD2B\/R2, LGMD2C\/R5, LGMD2D\/R5, LGMD2E\/R4 ve LGMD2L\/R12. Bu klinik a\u015famadaki biyoteknoloji \u015firketi, Nationwide Children's Hospital ile i\u015fbirli\u011fi i\u00e7inde, AAVrh.74 vekt\u00f6r sistemine dayal\u0131 yenilik\u00e7i bir gen terapisi platformu kullanarak LGMD'nin bu formlar\u0131 i\u00e7in ilk kez d\u00fczeltici tedaviler olu\u015fturmaya odaklanmaktad\u0131r (Sarepta Therapeutics<\/a>) (Musk\u00fcler Distrofi Haberleri<\/a>) (BioSpace<\/a>).<\/p>\n<\/div>

<\/div><\/div>

17-19 Mart 2017 tarihleri aras\u0131nda Naarden, Hollanda'da d\u00fczenlenen 229. ENMC uluslararas\u0131 \u00e7al\u0131\u015ftay\u0131nda Ekstremite ku\u015fa\u011f\u0131 kas distrofileri (LGMD'ler) i\u00e7in yeni isimlendirme ve s\u0131n\u0131fland\u0131rma sistemi<\/strong>. Revizyon, LGMD tan\u0131m\u0131n\u0131 g\u00fcncellemek ve resesif formun alt tip numaraland\u0131rmas\u0131n\u0131n Z'ye (LGMD 2Z) ula\u015fmas\u0131 sorununu ele almak i\u00e7in gerekliydi. Yeni sistem, LGMD'yi alt tipler aras\u0131ndaki ortak \u00f6zelliklerle daha belirgin bir varl\u0131k haline getirmeyi ama\u00e7lamaktad\u0131r.<\/p>\n<\/div>

<\/div><\/div>

2017 y\u0131l\u0131nda Disferlinopati i\u00e7in ilk kas i\u00e7i (IM) \u00e7ift vekt\u00f6r gen terapisi klinik \u00e7al\u0131\u015fmas\u0131<\/strong> LGMD'nin bu formunun tedavisinde \u00f6nemli bir ilerlemeye i\u015faret ederek ba\u015flat\u0131ld\u0131.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2018<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2018grasp\"<\/span><\/div>

2018 y\u0131l\u0131nda G<\/strong>enetic R<\/strong>\u00e7\u00f6z\u00fcm ve A<\/strong>DE\u011eERLEND\u0130RMELER S<\/strong>olving P<\/strong>LGMD'deki henotipler (GRASP-LGMD)<\/strong> LGMD'lerde terap\u00f6tik geli\u015fimi h\u0131zland\u0131rmak i\u00e7in konsorsiyum olu\u015fturulmu\u015ftur.<\/p>\n<\/div>

<\/div><\/div>
\"2018<\/span><\/div>

Bu LGMD2L Vakf\u0131<\/strong><\/a> kuruldu.<\/p>\n<\/div>

<\/div><\/div>
\"2018<\/span><\/div>

Bu Calpain 3'\u00fc \u0130yile\u015ftirme Koalisyonu<\/strong><\/a> a\u00e7\u0131klad\u0131lar Gen Terapisi Giri\u015fimi<\/strong>Limb-Girdle Muscular Dystrophy tip 2A\/R1 (LGMD2A\/R1) tedavisine y\u00f6nelik gen terapilerinin geli\u015ftirilmesini h\u0131zland\u0131rmay\u0131 ama\u00e7lamaktad\u0131r.<\/p>\n<\/div>

<\/div><\/div>
\"2018lgmd2a<\/span><\/div>

Bu LGMD2A\/R1 Bilimsel Konferans\u0131<\/strong> Limb-Girdle Muscular Dystrophy tip 2A\/R1 ile m\u00fccadeledeki en son geli\u015fmeleri ve stratejileri tart\u0131\u015fmak \u00fczere uzmanlar\u0131 ve ara\u015ft\u0131rmac\u0131lar\u0131 bir araya getiren etkinlik Arlington, Virginia'da ger\u00e7ekle\u015ftirildi.<\/p>\n<\/div>

<\/div><\/div>
\"2018<\/span><\/div>

Bu LGMD-1D DNAJB6 Vakf\u0131<\/strong><\/a> kuruldu.<\/p>\n<\/div>

<\/div><\/div>

Sarepta Therapeutics ilk ara\u015ft\u0131rmay\u0131 ger\u00e7ekle\u015ftirdi gen terapisinin t\u00fcm v\u00fccuda uygulanmas\u0131<\/strong> Limb-Girdle Musk\u00fcler Distrofi i\u00e7in, \u00f6zellikle beta-Sarkoglikan genini (LGMD2E) hedeflemektedir.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2019<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>

2019 y\u0131l\u0131nda Uluslararas\u0131 LGMD Toplum Dan\u0131\u015fma Kurulu (CAB)<\/strong> k\u00fcresel Limb-Girdle Musk\u00fcler Distrofi toplulu\u011fu i\u00e7in birle\u015fik bir ses sa\u011flamak ve hastalar, ara\u015ft\u0131rmac\u0131lar ve sa\u011fl\u0131k hizmeti sa\u011flay\u0131c\u0131lar\u0131 aras\u0131nda i\u015fbirli\u011fini kolayla\u015ft\u0131rmak amac\u0131yla kurulmu\u015ftur.<\/p>\n<\/div>

<\/div><\/div>
\"2019limeemoji\"<\/span><\/div>

Bu \"LIMEmoji Challenge\"<\/strong> LGMD konusunda fark\u0131ndal\u0131\u011f\u0131n art\u0131r\u0131lmas\u0131na yard\u0131mc\u0131 olmak i\u00e7in tan\u0131t\u0131ld\u0131.<\/p>\n<\/div>

<\/div><\/div>

de\u011ferlendirmek \u00fczere bir klinik \u00e7al\u0131\u015fma ba\u015flat\u0131lm\u0131\u015ft\u0131r. haftada bi\u0307r kez kullanilan steroi\u0307di\u0307n a\u00e7ik eti\u0307ket g\u00fcvenli\u0307k ve etki\u0307nli\u0307\u011fi\u0307<\/strong> Limb-Girdle Musk\u00fcler Distrofi (LGMD) hastalar\u0131nda tedavi.<\/p>\n<\/div>

<\/div><\/div>
\"2019conference\"<\/span><\/div>

\u0130lk olarak Uluslararas\u0131 LGMD Konferans\u0131<\/strong> Chicago, Illinois'de d\u00fczenlenen ve d\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan hastalar\u0131, aileleri, ara\u015ft\u0131rmac\u0131lar\u0131 ve klinisyenleri bilgi payla\u015fmak ve Limb-Girdle Muscular Dystrophy'nin (LGMD) anla\u015f\u0131lmas\u0131n\u0131 ve tedavisini ilerletmek i\u00e7in bir araya getirdi.<\/p>\n<\/div>

<\/div><\/div>
\"2109india\"<\/span><\/div>

Bu 2B G\u00fc\u00e7lendirilmi\u015f hasta toplant\u0131s\u0131<\/strong> Hindistan'\u0131n Mumbai kentinde d\u00fczenlenen etkinlik, Limb-Girdle Muscular Dystrophy'den etkilenen bireylerin ba\u011flant\u0131 kurmalar\u0131, deneyimlerini payla\u015fmalar\u0131 ve alan\u0131n \u00f6nde gelen uzmanlar\u0131ndan de\u011ferli bilgiler edinmeleri i\u00e7in bir platform sa\u011flad\u0131.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2020<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2020laf\"<\/span><\/div>

2020 y\u0131l\u0131nda LGMD Fark\u0131ndal\u0131k Vakf\u0131<\/strong><\/a> Limb-Girdle Muscular Dystrophy'den (LGMD) etkilenenlerin ya\u015famlar\u0131n\u0131 iyile\u015ftirmeyi ama\u00e7layan fark\u0131ndal\u0131\u011f\u0131 art\u0131rmak, e\u011fitim sa\u011flamak ve ara\u015ft\u0131rma \u00e7abalar\u0131n\u0131 desteklemek i\u00e7in kurulmu\u015ftur.<\/p>\n<\/div>

<\/div><\/div>
\"2020girdie\"<\/span><\/div>

Girdie, LGMD B\u00fcy\u00fckel\u00e7isi,<\/strong><\/a> LGMD toplulu\u011funa tan\u0131t\u0131ld\u0131.<\/p>\n<\/div>

<\/div><\/div>

A Hasta Dinleme Oturumu<\/strong> FDA ile Limb-Girdle Muscular Dystrophy (LGMD) i\u00e7in bir toplant\u0131 d\u00fczenleyerek hastalara ve bak\u0131c\u0131lara deneyimlerini payla\u015fma ve yeni tedavi ve terapilere olan acil ihtiyac\u0131 do\u011frudan d\u00fczenleyici yetkililerle vurgulama f\u0131rsat\u0131 sa\u011flad\u0131.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2021<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2021lgmdnews\"<\/span><\/div>

Derginin ilk say\u0131s\u0131 LGMD Haberleri<\/em> dergi<\/strong><\/a> 2021'de yay\u0131mlanm\u0131\u015ft\u0131r (cilt 1\/ say\u0131 1).<\/p>\n<\/div>

<\/div><\/div>

\u0130lk olarak \"Sanal\" Uluslararas\u0131 LGMD Konferans\u0131<\/strong> d\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan gelen kat\u0131l\u0131mc\u0131lar\u0131n k\u00fcresel salg\u0131n\u0131n yaratt\u0131\u011f\u0131 zorluklara ra\u011fmen Limb-Girdle Muscular Dystrophy (LGMD) i\u00e7in en son ara\u015ft\u0131rmalar, tedaviler ve destek hakk\u0131nda ba\u011flant\u0131 kurmalar\u0131na ve tart\u0131\u015fmalara kat\u0131lmalar\u0131na olanak sa\u011flad\u0131.<\/p>\n<\/div>

<\/div><\/div>
\"2021diagnosticcodes\"<\/span><\/div>

\u00d6zel ICD-10 t\u0131bbi kodlar\u0131 onayland\u0131<\/strong> Limb-Girdle Muscular Dystrophy'nin (LGMD) \u00e7e\u015fitli spesifik alt tiplerinin yan\u0131 s\u0131ra spesifik olmayan alt tipler i\u00e7in de daha iyi te\u015fhis, tedavi ve hastal\u0131\u011f\u0131n sa\u011fl\u0131k sisteminde izlenmesini kolayla\u015ft\u0131r\u0131r.<\/p>\n<\/div>

<\/div><\/div>

'nin Faz 2 klinik \u00e7al\u0131\u015fmas\u0131nda ilk hasta dozland\u0131. BBP-418 (Ribitol)<\/strong> BridgeBio Pharma ve ba\u011fl\u0131 kurulu\u015fu ML Bio Solutions taraf\u0131ndan y\u00fcr\u00fct\u00fclen Limb-Girdle Muscular Dystrophy Type 2I\/R9 (LGMD2I\/R9) tedavisi i\u00e7in.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2022<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"Screenshot<\/span><\/div>

2022 y\u0131l\u0131nda LGMD K\u00fcresel Savunuculuk Zirvesi<\/strong> fark\u0131ndal\u0131k yaratma, ara\u015ft\u0131rmalar\u0131 destekleme ve Limb-Girdle Muscular Dystrophy'den (LGMD) etkilenenlerin ya\u015famlar\u0131n\u0131 iyile\u015ftirme \u00e7abalar\u0131nda i\u015fbirli\u011fi yapmak ve ilerleme kaydetmek i\u00e7in d\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan savunucular\u0131, hastalar\u0131, ara\u015ft\u0131rmac\u0131lar\u0131 ve politika yap\u0131c\u0131lar\u0131 bir araya getirdi.<\/p>\n<\/div>

<\/div><\/div>
\"2022girdie\"<\/span><\/div>

Girdie,<\/strong> LGMD el\u00e7isi \"hayata ge\u00e7irildi\" ve Iowa'daki Wellstone Distroglikanopatiler Hasta ve Aile Konferans\u0131'nda g\u00f6r\u00fcc\u00fcye \u00e7\u0131kt\u0131.<\/p>\n<\/div>

<\/div><\/div>
\"2022externallyled\"<\/span><\/div>

\u0130lk olarak Limb-Girdle Muscular Dystrophies (LGMDs) i\u00e7in D\u0131\u015far\u0131dan Y\u00f6netilen Hasta Odakl\u0131 \u0130la\u00e7 Geli\u015ftirme Toplant\u0131s\u0131 (EL-PFDD)<\/strong> FDA ve di\u011fer payda\u015flarla birlikte d\u00fczenlenen bu etkinlik, hastalar\u0131n ve hasta bak\u0131c\u0131lar\u0131n ila\u00e7 geli\u015ftirme ve d\u00fczenleyici karar alma s\u00fcre\u00e7lerini bilgilendirmek \u00fczere deneyimlerini ve bak\u0131\u015f a\u00e7\u0131lar\u0131n\u0131 payla\u015fmalar\u0131 i\u00e7in \u00f6nemli bir platform sa\u011flam\u0131\u015ft\u0131r.<\/p>\n<\/div>

<\/div><\/div>

CDC, LGMD'ye \u00f6zg\u00fc ICD-10 kodlar\u0131<\/strong>Limb-Girdle Musk\u00fcler Distrofi alt tiplerinin sa\u011fl\u0131k sistemi i\u00e7inde daha kesin bir \u015fekilde te\u015fhis edilmesini, belgelenmesini ve izlenmesini sa\u011flar.<\/p>\n<\/div>

<\/div><\/div>
\"2023<\/span><\/div>

K\u00e2r amac\u0131 g\u00fctmeyen Titin Tak\u0131m\u0131, Inc.<\/strong><\/a> LGMD2J\/R10 toplulu\u011funu desteklemek \u00fczere kurulmu\u015ftur.<\/p>\n<\/div>

Titin Tak\u0131m\u0131'n\u0131n ev sahipli\u011finde SciFam Ara\u015ft\u0131rma-Aile Konferans\u0131.<\/strong><\/p>\n<\/div>

<\/div><\/div>
\"2023<\/span><\/div>

Bu Daniel Ferguson LGMD Vakf\u0131<\/strong><\/a> Avustralya'da Limb-Girdle Muscular Dystrophy'den etkilenen bireyler ve aileler i\u00e7in ara\u015ft\u0131rmalar\u0131 desteklemek, fark\u0131ndal\u0131\u011f\u0131 art\u0131rmak ve kaynak sa\u011flamak amac\u0131yla kurulmu\u015ftur.<\/p>\n<\/div>

<\/div><\/div>

\u0130lk hastaya bir hafta i\u00e7inde doz verildi. LGMD-R9 i\u00e7in gen terapisinin Avrupa'daki Faz 1\/2 klinik \u00e7al\u0131\u015fmas\u0131<\/strong>Atamyo Therapeutics taraf\u0131ndan y\u00fcr\u00fct\u00fclen ve Limb-Girdle Muscular Dystrophy'nin bu alt tipine y\u00f6nelik tedavilerin geli\u015ftirilmesinde \u00f6nemli bir ad\u0131m\u0131 i\u015faret ediyor.<\/p>\n<\/div>

<\/div><\/div>
\"2022<\/span><\/div>

CureLGMD2i ilk kez ev sahipli\u011fi yapt\u0131 \"Tedavi i\u00e7in Ba\u011flan\u0131yoruz\"<\/strong> LGMD Fark\u0131ndal\u0131k G\u00fcn\u00fc etkinli\u011fi, fark\u0131ndal\u0131k yaratmak, bilgi payla\u015fmak ve Limb-Girdle Musk\u00fcler Distrofi tip 2i i\u00e7in tedavi aray\u0131\u015f\u0131n\u0131 desteklemek \u00fczere hastalar\u0131, aileleri, ara\u015ft\u0131rmac\u0131lar\u0131 ve savunucular\u0131 bir araya getirmektedir.<\/p>\n<\/div>

<\/div><\/div>

Bu Klinik Sonu\u00e7 \u00c7al\u0131\u015fmas\u0131\/Disferlinoapthy'nin Do\u011fal \u00d6yk\u00fcs\u00fc<\/strong> 10 y\u0131ll\u0131k hasta kat\u0131l\u0131m\u0131 ve klinik veri toplama s\u00fcrecini kutlayarak, Limb-Girdle Muscular Dystrophy'nin bu \u00f6zel formunun anla\u015f\u0131lmas\u0131 ve tedavisine on y\u0131ll\u0131k de\u011ferli katk\u0131lar\u0131 vurgulam\u0131\u015ft\u0131r.<\/p>\n<\/div>

<\/div><\/div>
\"2022<\/span><\/div>

LGMD Savunuculuk Paketleri<\/strong><\/a> LGMD Fark\u0131ndal\u0131k Vakf\u0131 taraf\u0131ndan ABD'deki 6 klinikte konu\u015fland\u0131r\u0131ld\u0131.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2023<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2023voicepatient\"<\/span><\/div>

2023 y\u0131l\u0131nda LGMD \"Hastan\u0131n Sesi\" Raporu<\/strong> Limb-Girdle Muscular Dystrophy'nin alt\u0131 spesifik alt tipine sahip bireylerin kar\u015f\u0131lanmam\u0131\u015f ihtiya\u00e7lar\u0131n\u0131 ve kar\u015f\u0131la\u015ft\u0131klar\u0131 zorluklar\u0131 vurgulayan ve gelecekteki ara\u015ft\u0131rma ve tedavi \u00e7abalar\u0131na rehberlik edecek de\u011ferli bilgiler sa\u011flayan bir rapor yay\u0131mland\u0131.<\/p>\n<\/div>

<\/div><\/div>

'nin etkinli\u011fini ve g\u00fcvenli\u011fini de\u011ferlendirmek \u00fczere bir \u00e7al\u0131\u015fma ba\u015flat\u0131lm\u0131\u015ft\u0131r. BBP-418 (Ribitol)<\/strong> ML BioSolutions taraf\u0131ndan y\u00fcr\u00fct\u00fclen Limb-Girdle Muscular Dystrophy 2I (LGMD2I\/R9) hastalar\u0131nda.<\/p>\n<\/div>

<\/div><\/div>

\u0130lk hasta, bir Faz 1\/Faz 2 \u00e7al\u0131\u015fmas\u0131nda tedavi edildi. AB-1003 gen tedavisi<\/strong> AskBio taraf\u0131ndan Limb-Girdle Muscular Dystrophy Type 2I\/R9 i\u00e7in y\u00fcr\u00fct\u00fclen \u00e7al\u0131\u015fma, bu LGMD alt tipi i\u00e7in yeni tedavilerin geli\u015ftirilmesinde \u00f6nemli bir kilometre ta\u015f\u0131n\u0131 i\u015faret ediyor.<\/p>\n<\/div>

<\/div><\/div>
\"2023intlconference\"<\/span><\/div>

\u0130lk olarak \"Hibrit\" Uluslararas\u0131 LGMD Konferans\u0131<\/strong> Washington DC'de d\u00fczenlenen etkinlik, k\u00fcresel bir izleyici kitlesini a\u011f\u0131rlamak ve Limb-Girdle Muscular Dystrophy ile m\u00fccadelede ara\u015ft\u0131rmac\u0131lar, klinisyenler, hastalar ve savunucular aras\u0131nda i\u015fbirli\u011fini te\u015fvik etmek i\u00e7in hem y\u00fcz y\u00fcze hem de sanal kat\u0131l\u0131m\u0131 birle\u015ftirdi.<\/p>\n<\/div>

<\/div><\/div>
\"2023<\/span><\/div>

Calpain 3'\u00fc \u0130yile\u015ftirme Koalisyonu<\/a> yeni\u0307 lansman LGMD2A\/Calpainopathy Kay\u0131t Defteri <\/strong><\/p>\n<\/div>

<\/div><\/div>
\"2023<\/span><\/div>

K\u00e2r amac\u0131 g\u00fctmeyen Dion Vakf\u0131<\/strong><\/a> Limb-Girdle Muscular Dystrophy'den etkilenen bireyler ve aileler i\u00e7in ara\u015ft\u0131rmalar\u0131 desteklemek, fark\u0131ndal\u0131\u011f\u0131 art\u0131rmak ve kaynak sa\u011flamak amac\u0131yla kurulmu\u015ftur.<\/p>\n<\/div>

<\/div><\/div>

Sarepta Therapeutics, SRP 6004 Kavram Kan\u0131t\u0131 Klinik Denemesinde ilk t\u00fcm v\u00fccut\/sistemik tedaviyi ba\u015flatm\u0131\u015ft\u0131r. NAVIGENE<\/strong><\/a> disferlinopati \u00e7al\u0131\u015fmas\u0131, Limb-Girdle Musk\u00fcler Distrofinin bu spesifik formuna y\u00f6nelik tedavi yakla\u015f\u0131m\u0131nda \u00f6nemli bir ilerlemeyi temsil etmektedir.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2024<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"2024<\/span><\/div>

2024 y\u0131l\u0131nda taramaya ba\u015flanm\u0131\u015ft\u0131r. EMERGENE<\/strong> SRP-9003'\u00fcn Sarepta Therapeutics taraf\u0131ndan y\u00fcr\u00fct\u00fclen Limb-Girdle Musk\u00fcler Distrofi Tip 2E\/R4 tedavisine y\u00f6nelik Faz 3 Klinik \u00c7al\u0131\u015fmas\u0131, bu LGMD alt tipi i\u00e7in potansiyel yeni tedavi se\u00e7eneklerine y\u00f6nelik \u00f6nemli bir ad\u0131m\u0131 i\u015faret etmektedir.<\/p>\n<\/div>

<\/div><\/div>
\"2024drugworkshop\"<\/span><\/div>

LGMD Bilimsel \u0130la\u00e7 Geli\u015ftirme \u00c7al\u0131\u015ftay\u0131<\/strong> Limb-Girdle Musk\u00fcler Distrofi i\u00e7in yeni terap\u00f6tik stratejilerin geli\u015ftirilmesini tart\u0131\u015fmak ve ilerletmek i\u00e7in ara\u015ft\u0131rmac\u0131lar\u0131, klinisyenleri ve end\u00fcstri liderlerini bir araya getiren Bethesda, Maryland'de d\u00fczenlendi.<\/p>\n<\/div>

<\/div><\/div>
\"2024<\/span><\/div>

Test i\u00e7in klinik ara\u015ft\u0131rma uygulamas\u0131 ATA-200, ara\u015ft\u0131rma ama\u00e7l\u0131 bir gen terapisi<\/strong> Atamyo Therapeutics taraf\u0131ndan Limb-Girdle Muscular Dystrophy tip 2C\/R5 hastas\u0131 \u00e7ocuklar i\u00e7in geli\u015ftirilen ila\u00e7, Fransa ve \u0130talya'da onaylanarak bu LGMD alt tipine y\u00f6nelik potansiyel tedavilere y\u00f6nelik \u00f6nemli ara\u015ft\u0131rmalar\u0131n \u00f6n\u00fcn\u00fc a\u00e7t\u0131.<\/p>\n<\/div>

<\/div><\/div>
\"2024<\/span><\/div>

\u0130lk olarak LGMDR9 (LGMD2I) Avrupa Hasta G\u00fcn\u00fc<\/strong> Hollanda'n\u0131n Amsterdam kentinde d\u00fczenlenen etkinlik, hastalar\u0131n, ailelerin, ara\u015ft\u0131rmac\u0131lar\u0131n ve sa\u011fl\u0131k profesyonellerinin ba\u011flant\u0131 kurmalar\u0131, deneyimlerini payla\u015fmalar\u0131 ve Limb-Girdle Muscular Dystrophy Tip 2I'nin tedavisi ve y\u00f6netimindeki en son geli\u015fmeler hakk\u0131nda bilgi edinmeleri i\u00e7in bir platform sa\u011flad\u0131.<\/p>\n<\/div>

<\/div><\/div>

Bu LGMD2A\/R1 Bilimsel Toplant\u0131s\u0131<\/strong> Limb-Girdle Musk\u00fcler Distrofi Tip 2A\/R1'in anla\u015f\u0131lmas\u0131 ve tedavisindeki en son bulgular\u0131 ve geli\u015fmeleri tart\u0131\u015fmak \u00fczere uzmanlar\u0131 ve ara\u015ft\u0131rmac\u0131lar\u0131 bir araya getirerek Arlington, Virginia'da ger\u00e7ekle\u015ftirildi.<\/p>\n<\/div>

<\/div><\/div>

Bu Dysferlin Bilimsel Konferans\u0131<\/strong> Houston, Teksas'ta d\u00fczenlenen etkinlikte ara\u015ft\u0131rmac\u0131lar, klinisyenler ve end\u00fcstri uzmanlar\u0131 bir t\u00fcr Limb-Girdle Musk\u00fcler Distrofi olan disferlinopatinin incelenmesi ve tedavisine ili\u015fkin g\u00f6r\u00fc\u015f ve geli\u015fmeleri payla\u015fmak \u00fczere bir araya geldi.<\/p>\n<\/div>

<\/div><\/div>
\"2024\"<\/span><\/div>

Bu 10. Y\u0131ll\u0131k LGMD Fark\u0131ndal\u0131k G\u00fcn\u00fc<\/strong><\/a> d\u00fcnya \u00e7ap\u0131nda kutlanmaktad\u0131r.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

2025<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"CureSCG<\/a><\/span><\/div>

Cure SCG<\/a> (Cure Sarcoglycanopathy)<\/strong> was established in the United States. Their mission is to find a cure for LGMD Sarcoglycanopathy, inclusive of its LGMD2C\/R5, LGMD2D\/R3, LGMD2E\/\u200bR4, and LGMD2F\/R6 variants.<\/strong><\/p>\n<\/div>

<\/div><\/div>

Coalition of LGMD Advocacy Organizations hosted a reception for researchers and clinicians at the 2025 MDA Clinical and Scientific Conference<\/a> in Dallas, TX<\/p>\n<\/div>

<\/div><\/div>
\"In<\/a><\/span><\/div>

The documentary\u00a0\u201cIn Search of Strength \u2013 The Unfinished Fight Against\u00a0Muscular\u00a0Dystrophy\u201d<\/strong><\/a>\u00a0was released.<\/p>\n<\/div>

<\/div><\/div>
\"Curelgmd2t\"<\/span><\/div>

Cure LGMD2T<\/strong>\u00a0was established in the United States. Their mission is dedicated to raising awareness of\u00a0Limb-Girdle\u00a0Muscular\u00a0Dystrophy\u00a02T<\/strong>\u00a0and providing critical funding for research into effective treatments.<\/p>\n<\/div>

<\/div><\/div>
\"Askbio<\/span><\/div>

AskBio Advances Gene Therapy Clinical Trial\u00a0for\u00a0Limb-Girdle\u00a0Muscular\u00a0Dystrophy\u00a0Type 2I\/R9<\/strong>\u00a0with Dosing of First Participant in Second Cohort<\/p>\n<\/div>

<\/div><\/div>
\"2024<\/span><\/div>

Atamyo Therapeutics Announces First Patients Dosed with ATA-200 Gene Therapy in\u00a0LGMD-2C\/R5<\/strong>\u00a0Clinical Trial<\/p>\n<\/div>

<\/div><\/div>

U.S. FDA Grants Platform Technology Designation to the Viral Vector Used in SRP-9003, Sarepta\u2019s Investigational Gene Therapy for the Treatment of\u00a0Limb\u00a0Girdle\u00a0Muscular\u00a0Dystrophy\u00a0Type 2E\/R4<\/strong><\/p>\n<\/div><\/div><\/div><\/div><\/div>

2026<\/h2><\/div><\/div><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
\"CureSCG<\/a><\/span><\/div>

Atamyo Therapeutics<\/a> Presents Positive Safety and Efficacy Data from a US Phase 1b\/2 Trial of its Gene Therapy (ATA-200) for Linb-Girdle Muscular Dystrophy R5 (LGMD-R5)<\/b><\/p>\n<\/div>

<\/div><\/div>
\"CureSCG<\/a><\/span><\/div>

BrideBio<\/a> Submits NDA to FDA for BBP-418 for Individuals Living with LGMD2I\/R9<\/p>\n<\/div>

<\/div><\/div>
\"2026<\/a><\/span><\/div>

LGMD Policy Action Day<\/strong> brought our community directly to Capitol Hill \u2014 with a full schedule of meetings across both the House and Senate to address the realities of ultra-rare drug development. LGMD Policy Action Days bring in scientific experts who understand the health policy ecosystem as it intersects with science. It is a perspective that policymakers want to hear, and the stories of those with lived experience help underscore the need as we share how ultra-rare drug development must evolve to get treatments to our communities.<\/p>\n<\/div>

<\/div><\/div>
<\/span><\/div>

The Speak Foundation Launches Patient-Led National LGMD Centers of Excellence<\/strong>, Uniting Leading Academic Institutions to Accelerate Clinical Trials and New Therapies.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/p>","protected":false},"excerpt":{"rendered":"

Limb-Girdle Muscular Dystrophy (LGMD) ile m\u00fccadelede on y\u0131ll\u0131k etkili d\u00f6n\u00fcm noktalar\u0131n\u0131 ke\u015ffedin. \u00c7\u0131\u011f\u0131r a\u00e7an genetik dizileme ve fark\u0131ndal\u0131k kampanyalar\u0131ndan uluslararas\u0131 konferanslara ve klinik \u00e7al\u0131\u015fmalara kadar, LGMD'den etkilenenlerin ya\u015famlar\u0131n\u0131 iyile\u015ftirmeye y\u00f6nelik \u00f6nemli geli\u015fmeleri ve devam eden \u00e7abalar\u0131 ke\u015ffedin.<\/p>","protected":false},"author":1,"featured_media":9006,"parent":43,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-8368","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"\nLGMD Milestones - Over a Decade of Difference - LGMD Awareness Foundation<\/title>\n<meta name=\"description\" content=\"Explore a decade of impactful milestones in the fight against Limb-Girdle Muscular Dystrophy (LGMD), from groundbreaking genetic sequencing and awareness campaigns to international conferences and clinical trials.\" \/>\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.lgmd-info.org\/tr\/knowledge-base\/lgmd-milestones-a-decade-of-difference\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD Milestones - 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