Tofersen 薩省裏賈納女子 使用有效

Tofersen 薩省裏賈納女子 使用有效

裏賈納女子是加拿大批準的“突破性”ALS藥物的活生生的證明。

https://www.cbc.ca/news/canada/saskatchewan/regina-woman-living-proof-als-drug-approved-1.7479176

Qalsody 藥物在加拿大獲批用於治療極為罕見的 ALS 疾病

Bonnie Allen · CBC 新聞 ·[e-mail] 2025年3月11日

女子坐在沙發上對著鏡頭微笑。裏賈納居民 Paula Trefiak 於 2016 年被診斷出患有肌萎縮側索硬化症 (ALS)，並被告知隻能再活兩到五年。然而，多虧了一種治療這種極為罕見的遺傳性疾病的新型 ALS 藥物，她仍然過著積極的生活。 

裏賈納的一位母親是首批測試一種新療法的肌萎縮側索硬化症（ALS）患者之一，如今她正在慶祝該療法在加拿大獲得加速批準，用於治療一種極為罕見的ALS成人患者。
Paula Trefiak 服用 Tofersen（一種以 Qalsody 為品牌名銷售的藥物）的非凡經曆，正體現了研究人員為何稱該藥物為一項突破。

“我的生活徹底改變了。我現在真的很期待退休。我從未想過自己能退休，”43 歲的 Trefiak 告訴 CBC News。

肌萎縮側索硬化症 (ALS) 是一種致命的神經退行性疾病，也稱為盧伽雷氏症，患者的預期壽命為 2 至 5 年。他們被困在身體裏，失去了活動、說話、咀嚼，最終呼吸的能力。

加拿大衛生部確認，已有條件批準Qalsody用於治療與超氧化物歧化酶1 (SOD1)基因突變相關的ALS成年患者。

五位年輕女性的黑白照片：Paula Trefiak的祖母（左二）和她的姐妹們。五位女性中有三人死於ALS。（Paula Trefiak供稿）

渥太華根據一項計劃加快了該藥物的獲取，該計劃承認不向患者提供該藥物是不道德的，但製藥公司Biogen仍必須完成額外的臨床試驗。

該藥物尚未納入公共或私人藥物計劃。

家族史

43歲的Trefiak在2001年父親被診斷出患有ALS時就意識到自己很有可能患上ALS。據她統計，她的家族中已有26人死於ALS。

五位女性的黑白照片：她們是Paula Trefiak曾祖父的姐妹們。四人在五年內全部死於ALS。家中共有10個兄弟姐妹，其中7人死於該病。（Paula Trefiak 提交）

大多數ALS病例是散發性的，但也有一小部分是遺傳性的。約3%的ALS病例與SOD1基因突變有關。

盡管Trefiak有家族病史，但她表示，在她20多歲的時候，醫生們並不願意讓她去做基因檢測。她回憶起一位醫生告訴她：“你太年輕了，不可能得這種病。而且這種病無法治愈。沒有治療方法。所以最好不要去查。”

到2010年，她的肌肉開始痙攣數小時，Trefiak確信自己遺傳了這種基因變異。2016年2月，34歲的她被診斷出患有ALS。

她的預後很糟糕。當時沒有可用的治療方法。

“這簡直是毀滅性的打擊。我有三個年幼的孩子，卻要承受巨大的打擊，我即將失去擁抱他們、親吻他們的能力，而他們也將失去童年，成為我的照顧者，”她說。

2016年3月，保拉·特雷菲亞克和她的三個孩子在車裏，一個月前她被診斷出患有肌萎縮側索硬化症（ALS）。（保拉·特雷菲亞克供稿）

九個月後，她接到了一個電話，這給了她一些希望。她被邀請到蒙特利爾神經醫院參加一項針對SOD1基因突變導致的ALS患者的臨床試驗。

她認為自己在那次臨床試驗中服用的是安慰劑，但在2018年初，也就是研究的開放標簽階段，她開始服用100毫克的全劑量藥物。

那時，她麵部和嘴唇的肌肉不自主抽搐，導致她流口水和口吃。她身體虛弱，無法繼續從事健身教練和急救員的工作，而且由於無法再握住器械，她不得不放棄學業，轉而成為一名牙科保健員。

服藥九個月後，許多症狀得到了緩解。

臨床試驗

安吉拉·根格博士是一位神經科醫生，也是蒙特利爾神經科醫院ALS卓越中心的主任，也是臨床試驗的首席研究員。

她說，這種藥物實際上可以改變疾病本身，減緩甚至阻止病情發展。

“它能夠阻止大量ALS患者或患者的病情發展，”根格說。“[Qalsody]實際上是一個巨大的突破。”

公共衛生部門正在調查東部城鎮的ALS病例

前渥太華參議員隊助理教練鮑勃·瓊斯死於ALS

根格指出，保拉·特雷菲亞克仍然健在。

神經科醫生強調說：“成功接受治療的人不會死亡。”

這種藥物並非治愈疾病，隻有在服藥期間，療效才會持續。

一位女士背部接受針紮治療。Paula Trefiak 很高興能接受一種可以控製 ALS 的治療，但她必須每四周接受一次脊柱注射。這並非治愈疾病。（Paula Trefiak 提交）

如今，Trefiak 可以跑步和跳舞。

“我是一名芭蕾舞演員。我以前甚至無法踮起腳尖，現在我可以用一隻腳支撐全身重量，而且我又可以穿三英寸高跟鞋了，”她說。

觀看 | Paula Trefiak 在 2017 年記錄了自己麵部肌肉不自主抽搐的症狀。看看她現在的情況如何：

Paula Trefiak 在 2017 年記錄了自己麵部肌肉不自主抽搐的症狀。看看她現在的情況如何。

裏賈納的 ALS 患者 Paula Trefiak 參加了一種藥物的臨床試驗，該藥物減緩了病情進展，並逆轉了她的大部分症狀。

令人興奮的可能性

Genge 博士表示，這種治療方法已經激發了其他研究，研究對象包括非 SOD1 引起的 ALS 類型的療法，以及該藥物對攜帶該基因突變但尚未出現症狀的患者的影響。

“這樣我們就能在最早期就發現患者，這樣他們就不會出現任何重大症狀，我們就可以立即治療他們，”Genge 說道，並指出血液檢測可以揭示疾病的發作時間。

這對 Trefiak 來說也是一件令人興奮的事情。她有三個孩子可能遺傳了這種基因突變。這種藥物可以阻止他們出現ALS症狀，並幫助他們長壽。

關於作者

Bonnie Allen 資深記者
Bonnie Allen是加拿大廣播公司（CBC）駐薩斯喀徹溫省的資深新聞記者。她報道過加拿大及世界各地的新聞，並在非洲多個國家報道了五年。她擁有牛津大學國際人權法碩士學位。您可以通過[e-mail]聯係她。

 

Regina woman is living proof of 'breakthrough' ALS drug now approved in Canada

https://www.cbc.ca/news/canada/saskatchewan/regina-woman-living-proof-als-drug-approved-1.7479176

Qalsody approved in Canada for ultra-rare form of ALS

 Bonnie Allen · CBC News · 

[e-mail]   Mar 11, 2025 

 

Regina resident Paula Trefiak was diagnosed with amyotrophic lateral sclerosis (ALS) in 2016 and told she only had another two to five years to live. Instead, thanks to a new ALS drug for her ultra-rare genetic form of the disease, she's still living an active life. (Kirk Fraser/CBC News)

A Regina mother who was one of the first ALS patients to test a new treatment is now celebrating its accelerated approval in Canada for adults with an ultra-rare form of the disease.

Paula Trefiak's remarkable experience on tofersen, a medication sold under the brand name Qalsody, is reflective of why researchers are calling the drug a breakthrough.

"My life has completely changed. I am actually looking forward to retirement now. I never thought I would ever get to retirement," Trefiak, 43, told CBC News.

People diagnosed with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder also known as Lou Gehrig's disease, have a life expectancy of two to five years. They become trapped in their body, losing the ability to move, speak, chew and eventually breathe.

Health Canada confirms it has granted conditional approval to Qalsody to treat adults with ALS in cases linked to a mutation in the superoxide dismutase 1 (SOD1) gene.

 

Paula Trefiak's grandmother, second from the left, and her sisters. Three of the five women died from ALS. (Submitted by Paula Trefiak)

Ottawa expedited access to the drug under a program that recognizes it would be unethical to withhold it from patients, but pharmaceutical company Biogen must still complete additional clinical trials.

The drug is not yet covered under public or private drug programs.

Family history

Trefiak, 43, realized she had a pretty good chance of developing ALS when her father was diagnosed with the disease in 2001. She can count 26 people in her family who have died from the disease in her lifetime.

 

These are Paula Trefiak's great-grandfather's sisters. All four died from ALS within a five-year period. There were 10 siblings in the family and seven died from the disease. (Submitted by Paula Trefiak)

Most ALS cases are sporadic, but a small fraction are genetic. About three per cent of all ALS cases are linked to a mutation in the SOD1 gene.

Despite her family history, Trefiak said doctors were reluctant to send her for genetic testing when she was in her early 20s. She recounts one doctor telling her, "You're too young to have it. And there's no cure. There's no treatment. So it's best not to find out."

By 2010, her muscles began to cramp for hours and Trefiak felt certain she had inherited the gene variant. She was diagnosed with ALS in February 2016, at the age of 34.

Her prognosis was dire. There were no treatments available.

"It was absolutely devastating. I had three young children, and to know that I was going to lose my ability to hug them, to kiss them, and that they were going to lose their childhoods becoming my caregivers," she said.

 

Paula Trefiak with her three children in March 2016, a month after she was diagnosed with ALS. (Submitted by Paula Trefiak)

Nine months later, she got a phone call that gave her some hope. She was invited to the Neuro Hospital in Montreal to take part in a clinical trial designed for people with ALS caused by a mutation in the SOD1 gene.

She believes she received the placebo in that clinical trial, but began the full dosage of 100 mg in early 2018, during the open label portion of the study.

By then, involuntary muscle twitches in her face and lip were causing drooling and stuttering. She was too weak to continue her jobs as a fitness instructor and emergency medical responder, and had to give up on her schooling to become a dental hygienist because she couldn't hold the instruments any longer.

Within nine months of taking the drug, many of the symptoms reversed.

Clinical trials

Dr. Angela Genge is a neurologist, director of the ALS Centre of Excellent at The Neuro in Montreal and lead investigator in the clinical trials.

She said the medication actually modifies the disease itself and slows — even stops — the progression.

"It is able to stop the disease in its tracks on a significant number of patients or people living with ALS," Genge said. "[Qalsody] is actually a huge breakthrough."

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Genge points to the fact that Paula Trefiak is still alive.

"People are not dying who are successfully on the treatment," the neurologist said, emphasizing the drug is not a cure and that benefits only continue as long as the drug is taken.

 

Paula Trefiak is thrilled to have a treatment that controls her ALS, but must receive an injection in her spine every four weeks. It's not a cure. (Submitted by Paula Trefiak)

Today, Trefiak runs and dances.

"I'm a ballet dancer. I couldn't even get up on my toes anymore and now I can hold myself up on with full body weight on one foot and I'm back wearing my three-inch heels again," she said.

WATCH | Paula Trefiak recorded involuntary muscle twitching in her face in 2017. See how she has improved: 

 

Paula Trefiak recorded involuntary muscle twitching in her face in 2017. See how she improved

 

Regina ALS patient Paula Trefiak took part in clinical trials for a drug that has slowed the progression of the disease and reversed most of her symptoms.

Exciting possibilities

Dr. Genge said this treatment is already inspiring other research on therapies for forms of ALS not caused by SOD1, as well as the drug's impact on people who have the gene mutation but have yet to show symptoms.

"So that we catch people at the very, very, very beginning, so they never actually develop anything significant and we can treat them right away," Genge said, noting blood tests can reveal when the disease activates.

That's also exciting for Trefiak. She has three children who may have inherited the gene mutation. This drug could stop them from developing ALS symptoms and help them live long lives.

ABOUT THE AUTHOR

Bonnie Allen  Senior reporter

Bonnie Allen is a senior news reporter for CBC News based in Saskatchewan. She has covered stories from across Canada and around the world, reporting from various African countries for five years. She holds a master's degree in international human rights law from the University of Oxford. You can reach her at [e-mail]