发源于网络慈善活动“冰桶挑战”正在中美如火如荼地进行。这是一个宣传和救助渐冻人(ALS, Lou Gehrig's disease)的慈善活动。希望健康养生论坛网友也参加。
http://www.alsa.org/fight-als/ice-bucket-challenge.html
http://www.alsa.org/fight-als/ice-bucket-challenge.html
肌萎缩性脊髓侧索硬化症（ALS, Amyotrophic lateral sclerosis），又称卢·格里克症（Lou Gehrig's disease），肌萎缩侧索硬化症，俗称为渐冻人症，是一个渐进和致命的神经退行性疾病。起因是中枢神经系统内控制骨骼肌的运动神经元（motor neuron）退化所致。ALS病人由于上、下运动神经元（upper/lower motor neurons）都退化和死亡并停止传送讯息到肌肉，在不能运作的情况下，肌肉会逐渐衰弱、萎缩。 最后，大脑完全丧失控制随意运动的能力。这种疾病并不一定会如老人痴呆症般影响病人的心理运作。相反，那些患有晚期疾病的病人仍可保留发病前的记忆，同样的人格和智力。（wiki)
很多年以前看过一个连续剧《过把瘾》，其中男主人公得的怪病肌无力，就与这个ALS类似。在美国，全国患者人数少于20万的病叫做罕见病。类似的罕见病有7400种。因为开发罕见病药物的成本远远大于销售的可能收入，FDA 有一个Orphan Product Development 计划，就是与药物公司合作开发罕见病的药物计划。
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 |
