神經肌肉疾病

互動

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代表脊髓性肌肉萎縮症（SMA）患者出席於2025年12月舉行的CONITEC（Comissão Nacional de Incorporação de Tecnologias no SUS，即全國衛生技術納入委員會）會議；就CONITEC關於SMA治療給付之初步報告提交回應意見與建議；以及動員公眾參與公開諮詢。

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.

互動

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我們曾在FDA（食品藥物管理局）顧問委員會上作證，並協助籌辦以患者為中心的藥物開發會議。

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.

行動與倡議

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大力倡導爭取治療機會，並推動將脊髓性肌肉萎縮症（SMA）納入新生兒篩檢項目。

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.

行動與倡議

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為家族性ALS（肌萎縮性脊髓側索硬化症）SOD1基因突變患者，透過法律行動爭取使用Qalsody（托非森）的權利——該藥物已獲得FDA（美國食品藥物管理局）及EMA（歐洲藥品管理局）核准。

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