神经肌肉疾病

互动

阅读原始引用

在2025年12月举行的CONITEC（Comissão Nacional de Incorporação de Tecnologias no SUS——国家卫生技术纳入委员会）会议上代表SMA（脊髓性肌萎缩症）患者发声；就CONITEC关于SMA治疗报销的初步报告提交意见和建议；以及动员公众参与公开咨询。

Representação de pacientes com AME na reunião da Conitec ocorrida em dezembro de 2025; respostas e recomendações aos relatórios preliminares da Conitec sobre incorporação de medicamentos para AME; mobilização popular para consultas públicas.

互动

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我们曾在FDA（美国食品药品监督管理局）顾问委员会上作证，并协助组织了以患者为中心的药物开发会议。

We have testified at FDA Adcomms and have helped organize Patient-Focused Drug Development meetings; we also regularly submit comments in response to FDA RFIs.

行动与倡导

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大力倡导获得治疗的机会，并推动将SMA（脊髓性肌萎缩症）纳入新生儿筛查项目。

Heavily advocated for access to treatment and then for SMA to be added to the Newborn Screening Panel. Still advocate for adult access, but there has been less opportunity. I have personally also advocated for better access overall to medicines, as it always felt wrong to try and compete for standard of care treatments.

行动与倡导

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寻求法律途径，以确保获得Qalsody（托非森）——一种已获得FDA（美国食品药品监督管理局）和EMA（欧洲药品管理局）批准的治疗药物——用于治疗与SOD1基因突变相关的家族性ALS（肌萎缩侧索硬化症）。

SOD1 mutasyonlu Ailesel ALS hastalığı için FDA, EMA onayı almış Tofersen (Qalsody) ilacına erişim konusunda hukuksal mücadele.