{"id":2111,"date":"2018-07-26T10:25:01","date_gmt":"2018-07-26T15:25:01","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2111"},"modified":"2018-07-26T10:25:01","modified_gmt":"2018-07-26T15:25:01","slug":"organization-jain-foundation","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/lgmd2b\/2018\/07\/26\/organization-jain-foundation\/","title":{"rendered":"ORGANIZA\u00c7\u00c3O: Funda\u00e7\u00e3o Jain\u00a0"},"content":{"rendered":"
\"\"<\/figure>\n\n\n

NOME DA ORGANIZA\u00c7\u00c3O<\/strong>: Funda\u00e7\u00e3o Jain\u00a0\u00a0\u00a0<\/p>\n

S\u00cdTIO WEB:<\/strong>\u00a0 \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 www.jain-foundation.org<\/a><\/p>\n

FACEBOOK:\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <\/strong> www.facebook.com\/JainFoundation\/<\/a><\/p>\n

TWITTER:\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <\/strong> https:\/\/twitter.com\/JainFoundation<\/a><\/p>\n

EM QUE SUBTIPO DE LGMD SE CONCENTRA A SUA ORGANIZA\u00c7\u00c3O:\u00a0 <\/strong><\/p>\n

Disferlinopatia (LGMD2B\/Miopatia de Miyoshi Tipo 1), que s\u00e3o causadas por muta\u00e7\u00f5es no gene da disferlina.<\/p>\n

SE NOS CONCENTRARMOS NUM SUBTIPO, EXISTE UM REGISTO E COMO PODEM OS DOENTES ADERIR? <\/strong><\/p>\n

Sim, temos um registo para doentes com disferlinopatia. Incentivamos os doentes a contactarem-nos atrav\u00e9s do endere\u00e7o patients@jain-foundation.org; para mais informa\u00e7\u00f5es sobre o registo, consultar https:\/\/www.jain-foundation.org\/patient-physician-resources\/patient-registration<\/a><\/p>\n

A sua organiza\u00e7\u00e3o \u00e9 uma organiza\u00e7\u00e3o sem fins lucrativos? Em caso afirmativo, de que tipo:\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 <\/strong><\/p>\n

Estamos constitu\u00eddos como uma funda\u00e7\u00e3o privada sem fins lucrativos nos EUA. Como tal, n\u00e3o solicitamos donativos ao p\u00fablico.<\/p>\n

O QUE INSPIROU A CRIA\u00c7\u00c3O DA SUA ORGANIZA\u00c7\u00c3O<\/strong>:<\/p>\n

Come\u00e7\u00e1mos na sequ\u00eancia do diagn\u00f3stico de disferlinopatia ao filho do nosso fundador. Na sequ\u00eancia do contacto da fam\u00edlia com outros doentes e investigadores, a Funda\u00e7\u00e3o Jain foi criada em 2005.<\/p>\n

QUAL \u00c9 A MISS\u00c3O DA SUA ORGANIZA\u00c7\u00c3O:<\/strong><\/p>\n

Desenvolver tratamentos e curas para a disferlinopatia.<\/p>\n

QUE SERVI\u00c7OS PRESTA A SUA ORGANIZA\u00c7\u00c3O:<\/strong><\/p>\n

O nosso objetivo principal \u00e9 a investiga\u00e7\u00e3o e o desenvolvimento de tratamentos, e n\u00e3o a presta\u00e7\u00e3o de servi\u00e7os aos doentes. No entanto, n\u00e3o \u00e9 poss\u00edvel testar tratamentos ou determinar medidas de resultados para ensaios cl\u00ednicos sem doentes, e o diagn\u00f3stico continua a ser um grande desafio para todas as formas de LGMD. Por este motivo, mantemos um registo de doentes e prestamos servi\u00e7os de diagn\u00f3stico a doentes com probabilidade de sofrerem de disferlinopatia para ajudar a esclarecer o seu diagn\u00f3stico e permitir-lhes o acesso a ensaios cl\u00ednicos e, eventualmente, a tratamentos.<\/p>\n

DE QUE \u00c9 QUE A SUA ORGANIZA\u00c7\u00c3O MAIS SE ORGULHA:<\/strong><\/p>\n

Acab\u00e1mos de concluir um estudo cl\u00ednico de v\u00e1rios anos, o The Clinical Outcome Study of Dysferlinopathy, que envolveu cerca de 200 doentes em 15 centros cl\u00ednicos de oito pa\u00edses. Este estudo forneceu uma hist\u00f3ria natural definitiva da disferlinopatia, identificou as melhores medidas de resultados (o que ser\u00e1 medido, em quantas pessoas, durante quanto tempo) a utilizar em ensaios cl\u00ednicos para a disferlinopatia, a fim de determinar se um tratamento \u00e9 eficaz. Este estudo est\u00e1 prestes a entrar na fase seguinte, na qual os nossos resultados ser\u00e3o confirmados, mais 100 doentes poder\u00e3o participar e quatro novos centros m\u00e9dicos ser\u00e3o envolvidos.<\/p>\n

O que quer que o mundo saiba sobre a SUA ORGANIZA\u00c7\u00c3O<\/strong>:<\/p>\n

Estamos a procurar v\u00e1rias abordagens para o tratamento da disferlinopatia, incluindo a terapia gen\u00e9tica, a reutiliza\u00e7\u00e3o de medicamentos j\u00e1 existentes no mercado para outras doen\u00e7as e o desenvolvimento de novos medicamentos. No que diz respeito \u00e0 terapia gen\u00e9tica, estamos atualmente a trabalhar em estreita colabora\u00e7\u00e3o com a Myonexus, que est\u00e1 a desenvolver uma terapia gen\u00e9tica AAV de \"vetor duplo\" para a disferlinopatia. Al\u00e9m disso, test\u00e1mos at\u00e9 agora mais de 15 tratamentos com medicamentos candidatos em estudos pr\u00e9-cl\u00ednicos em ratos com disferlinopatia e estamos sempre a explorar e a testar novas op\u00e7\u00f5es de tratamento. Temos esperan\u00e7a de que um ou mais destes tratamentos venham a revelar-se ben\u00e9ficos para a disferlinopatia.<\/p>\n

COMO \u00c9 QUE AS PESSOAS SE PODEM ENVOLVER NO APOIO \u00c0 SUA ORGANIZA\u00c7\u00c3O:<\/strong><\/p>\n

Como n\u00e3o angariamos fundos do p\u00fablico, o apoio que procuramos dos doentes e de outras pessoas \u00e9 que se juntem ao Registo de Disferlina, considerem participar em estudos cl\u00ednicos, aumentem a sensibiliza\u00e7\u00e3o para esta doen\u00e7a e se envolvam na comunidade. Est\u00e1 a tornar-se claro que, nas doen\u00e7as raras, a exist\u00eancia de uma forte organiza\u00e7\u00e3o de defesa dos doentes e de uma comunidade de doentes\/familiares \u00e9 fundamental para o desenvolvimento de tratamentos. A Jain Foundation pode fornecer a organiza\u00e7\u00e3o, mas precisamos do vosso apoio para construir uma comunidade forte!<\/p>\n

QUAL \u00c9 A MELHOR FORMA DE CONTACTAR A SUA ORGANIZA\u00c7\u00c3O:<\/strong><\/p>\n

Os doentes diagnosticados ou suspeitos de sofrer de disferlinopatia podem contactar-nos atrav\u00e9s do endere\u00e7o patients@jain-foundation.org. Al\u00e9m disso, encorajamos as pessoas a visitar o nosso s\u00edtio Web, que cont\u00e9m muita informa\u00e7\u00e3o sobre a disferlinopatia e os nossos programas de investiga\u00e7\u00e3o.<\/p>\n

H\u00c1 MAIS ALGUMA COISA QUE GOSTARIA DE ACRESCENTAR?<\/strong><\/p>\n

Estamos concentrados em derrubar barreiras no caminho do nosso objetivo de desenvolver tratamentos e curas. Estes incluem o preenchimento de lacunas no conhecimento cient\u00edfico que nos podem ajudar a identificar poss\u00edveis tratamentos, a obten\u00e7\u00e3o de uma melhor compreens\u00e3o cl\u00ednica da doen\u00e7a para permitir a realiza\u00e7\u00e3o de ensaios cl\u00ednicos bem sucedidos, a manuten\u00e7\u00e3o de uma comunidade de doentes envolvida utilizando o Registo de Disferlina para que os ensaios possam ser preenchidos de forma eficiente e a realiza\u00e7\u00e3o de testes pr\u00e9-cl\u00ednicos e cl\u00ednicos de terapias prospectivas.<\/p>\n

\u00a0<\/p>","protected":false},"excerpt":{"rendered":"

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