3童試新藥有改善一人可自行走10步
- Families of SMA(Spinal Muscular Atrophy) Charitable Trust
- Jan 1, 2014
- 3 min read
3童試新藥有改善一人可自行走10步
【明報專訊】本港2014年開始對脊髓肌肉萎縮症（SMA）的藥物Spinraza做臨牀測試，至今有3名脊髓性肌萎縮症2型小童用藥。負責該臨牀測試的港大兒童及青少年科學系臨牀助理教授陳凱珊表示，3人用藥後肌力均有改善，其中一人由未能離手行走，變為最多可自行走10步，且未見負面影響，認為該藥安全，建議引入。
陳凱珊形容，SMA2型病人多數不能行走，3名病童試藥前都不能自行走路，被扶着走亦極易疲倦，如今兩人被扶着時步履更穩健，可走15分鐘，當中一人更可自行走5至10步。至於另外一人由無力坐，變成可以坐直，顯示頸、身體及手臀肌力改善，亦可做撕紙巾的動作。
港大學醫學院腦內科教授張德輝指，SMA屬隱性遺傳病，為罕見病，每10萬人才有1名患者；患者因遺傳基因變異，未能製造足夠運動神經元所需的蛋白，令肌肉乏力，影響肢體活動，甚至呼吸及吞咽等；患者分為1至4型，以1型病情最嚴重，一般出生數月後病發，活不過兩歲；4型病情較輕，多數成年後才發病。
他指出，近年獲美國食品及藥物管理局認可的Spinraza，其有效成分可令患者的「後備基因」製造更多所需蛋白，改善患者活動能力，惟該藥不可口服，要注射至脊髓，首年要注射6次，之後每年3次，但該藥未能修復基因，一旦停藥，病情有可能惡化；而病情較輕或較遲病發的SMA患者，一般擁有較多「後備基因」，料引入該藥後，成效更大。
Retrieve from SCMP [15/08/2016],
Drug trial brings new hope for sufferers of rare genetic disorder, Spinal Muscular Atrophy
Three children from Hong Kong are taking part in a clinic trial for a drug which could bring new hope for sufferers of a rare and currently incurable genetic disorder.
Experts and concern groups have said it is an “exciting time” for sufferers of Spinal Muscular Atrophy (SMA), and hope the city’s experience could play a role in helping patients across the country in the future.
SMA, a disease which gradually destroys a patient’s physical strength, can leave sufferers unable to walk or even breathe.
Without any available treatment, patients can only rely on therapies such as physiotherapy to slow the physical degradation. The Hospital Authority said around 100 SMA patients in total have been treated in Hong Kong’s public hospitals in the past four years.
“We are very positive and are really looking forward to the new drug,” said Wenus Chan, whose 5-year-old son is an SMA patient.
The three Hong Kong SMA patients, whose identities have been kept confidential, have been on the trial for the drug for around six months in Queen Mary Hospital.
They are among the 126 patients from 11 countries or regions which have taken part in the new study.
The drug, Nusinersen, was designed to increase the production of a protein named survival motor neuron – a key to the functioning of nerves that control muscles – and is injected into the spine. SMA patients do not have enough of the protein, and it can lead to fatal muscle weakness.
Breast cancer breakthrough: simple drug treatment may prevent most forms of disease Professor Kathryn Swoboda from Massachusetts General Hospital in the United States, who has been studying Nusinersen, expected the drug could be released into the market as early as June next year.
“It is truly an exciting time for rare diseases in general to see this moving forward so successfully,” said Swoboda when attending an SMA seminar in the city last week.
Dr John Bach from Rutgers New Jersey Medical School said the city could provide insights into patients elsewhere.
“[Queen Mary Hospital] is far in advance of 99 per cent of centres in the United States,” he said.
Fok Mei-ling, founder of Families of SMA Charitable Trust, hoped the city’s clinical trial experience could help patients across the border.
參考資料：
3童試新藥有改善一人可自行走10步，2017。明報，擷取自： https://news.mingpao.com/pns/dailynews/web_tc/article/20171008/s00001/1507399761587
Cheung, E (2016). Drug Trial Brings New Hope for Sufferers of Rare Genetic Disorder, Spinal Muscular Atrophy. 2016. SCMP. Retrieved from http://www.scmp.com/news/hong-kong/health- environment/article/2003739/drug-trial-brings-new-hope-sufferers-rare-genetic
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