發源於網絡慈善活動“冰桶挑戰”正在中美如火如荼地進行。這是一個宣傳和救助漸凍人(ALS, Lou Gehrig's disease)的慈善活動。希望健康養生論壇網友也參加。
http://www.alsa.org/fight-als/ice-bucket-challenge.html
http://www.alsa.org/fight-als/ice-bucket-challenge.html
肌萎縮性脊髓側索硬化症（ALS, Amyotrophic lateral sclerosis），又稱盧·格裏克症（Lou Gehrig's disease），肌萎縮側索硬化症，俗稱為漸凍人症，是一個漸進和致命的神經退行性疾病。起因是中樞神經係統內控製骨骼肌的運動神經元（motor neuron）退化所致。ALS病人由於上、下運動神經元（upper/lower motor neurons）都退化和死亡並停止傳送訊息到肌肉，在不能運作的情況下，肌肉會逐漸衰弱、萎縮。 最後，大腦完全喪失控製隨意運動的能力。這種疾病並不一定會如老人癡呆症般影響病人的心理運作。相反，那些患有晚期疾病的病人仍可保留發病前的記憶，同樣的人格和智力。（wiki)
很多年以前看過一個連續劇《過把癮》，其中男主人公得的怪病肌無力，就與這個ALS類似。在美國，全國患者人數少於20萬的病叫做罕見病。類似的罕見病有7400種。因為開發罕見病藥物的成本遠遠大於銷售的可能收入，FDA 有一個Orphan Product Development 計劃，就是與藥物公司合作開發罕見病的藥物計劃。
Developing Products for Rare Diseases & Conditions
The FDA Office of Orphan Products Development (OOPD) mission is to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions. In fulfilling that task, OOPD evaluates scientific and clinical data submissions from sponsors to identify and designate products as promising for rare diseases and to further advance scientific development of such promising medical products. The office also works on rare disease issues with the medical and research communities, professional organizations, academia, governmental agencies, industry, and rare disease patient groups.
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Healthcare Business News
Ice Bucket Challenge highlights how rare disease neglectedPosted: August 23, 2014 - 12:01 am ET
What a sad summer, marred by the racial unrest in Ferguson, Mo., and the beheading of a U.S. journalist by religious fanatics in the Middle East. The Ice Bucket Challenge launched by the ALS Association comes as welcome relief—and all for a good cause.
What a triumph of social media and marketing. Television news anchors, celebrities, even the president have been urged to dump a bucket of ice water on their heads and post a video on YouTube. The alternative is donating $100 to the ALS Association. Or you can do both. As of late last week, people from across the country, most of whom probably never gave a dime before to combat amyotrophic lateral sclerosis, had donated $42 million to further research into its causes and cures. ALS, called Lou Gehrig's disease because it took the life of the legendary New York Yankees first baseman, is a rare disease. About 1 in 55,000 Americans, or 5,600 people, are diagnosed annually with the disorder, a progressive deterioration of the motor neurons that leads to loss of muscle control and movement, and eventually the ability to breath. Death usually occurs about two to 10 years from diagnosis, but it's not universal. Most individuals get a sporadic form of the disease, according to the National Institutes of Health. The ALS Association estimates the mortality rate at 2 per 100,000 population in the U.S., or about 1,500 people a year.
Related ContentNot much is known about why it strikes people, or even what causes it. Only 5% to 10% of patients inherit the disorder. But in recent years, given the advances in studying genomics, most of the money raised for ALS research has focused on identifying the genes responsible for triggering ALS in this subgroup.
But even here, progress has been slow. The last major scientific advance—identification of a common genetic abnormality in familial ALS—came in 2011, according to the ALS Association website. The Food and Drug Administration has approved just one drug for treating ALS symptoms—in 1995. And that merely postpones the nervous system's deterioration for a few months. Will the outpouring of concern and money through the Ice Bucket Challenge change the trajectory of ALS research? Because of its high profile, ALS has never been a research orphan. The ALS Association even before the current surge had raised $99 million for research. Yet, as one close observer of the field told me last week, “They're not a lot further along than five to seven years ago. They're still grasping.” In that, the ALS Association isn't alone. There are more than 7,400 rare diseases listed in the databases maintained by the National Institutes of Health and the National Organization of Rare Disorders. Yet NORD has identified only 214 that have not-for-profit patient advocacy groups raising money for research. The FDA has approved only 350 therapies for those 7,400 conditions, many of which are more widespread and equally as devastating as ALS. Another name for rare diseases is orphan diseases because the drug and biotechnology industries generally show little interest in developing treatments for very small patient populations. Historically, most of the research into orphan diseases has been done by scientists operating on NIH grants. But that pipeline for innovation has been drying up in recent years, subject to the same budget cuts imposed on the rest of the discretionary domestic budget in Washington. NIH appropriations totaled $29.3 billion in 2013, about $300 million less than 2008. Rare disease research gets only a tiny fraction of that. Most federal money goes, as it should, to combat the major killers such as heart disease, cancer, infectious diseases and diabetes. What little government money is invested in rare disease research is heavily influenced by the loudest patient advocacy groups—like the ALS Association. Yet that isn't necessarily where the greatest likelihood of a breakthrough lies. Scientists and some drug companies—lured by special incentives and the high prices that now can be charged for drugs for orphan diseases—are making progress in developing therapies for the genetic disorders behind diseases such as Rett syndrome, which strikes young girls, or Duchenne muscular dystrophy, which occurs in about 1 in every 3,600 male newborns, who rarely survive beyond age 25. My intention isn't to throw cold water on the Ice Bucket Challenge. Have fun. Donate money. But let's not lose sight of the larger problem. The nation through its government is falling down on the job of properly funding research into the causes and cures of rare diseases. Follow Merrill Goozner on Twitter: @MHgoozner |
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