If the treatment has been used on other kids, how is it “completely untested”?
There are quite a few issues going on with this case.
The primary issue is that there is *no* indication of what the parents are proposing the "treatment" should be. Not a single article has published a single detail specifically linked to that case that would allow me to make any kind of informed judgment as to what is going on. The term that has been used, "nucleoside bypass therapy" is completely nonsensical from a scientific point of view. In fact, it is that term that has led me to suspect that the parents actually found some quack who has enough knowledge about scientific terminology to be able to throw words around as if he is actually knowledgeable on the subject. Word salad using fancy $15 words is still word salad.
I've seen nothing more than speculation about what the "treatment" will be. Well-meaning people have linked medical reviews of extremely early drug development efforts at treating mitochondrial deficiencies of various types. Those early development efforts are a good two decades out from being brought to the clinic--and the chance that they will pan out is low, given that only about one out of every hundred or so drug candidates ever makes it past early animal testing. (Drug development pipeline: in vitro, in cells, rodent/fish testing, primate testing, human testing in phase 1 safety, phase 2 dose-finding, and phase 3 efficacy. In the best case scenario, this takes at least a dozen years... real world conditions, it takes far longer.)
The issue about what kind of treatment these other kids who have a *different* mitochondrial disease have received is closely related to the second issue. Have these kids received this treatment in the context of a clinical trial conducted with IRB review, in conjunction with the FDA, with good solid scientific grounds on which to believe that the treatment might have beneficial effect? Or is this just something thrown together by some maverick physician who really knows nothing about clinical trial design or how to assess data, and the parents are convinced they see improvements because of a displaced placebo effect? If the latter, then how do we really know that whatever is being given these kids is safe and is not causing them pain or discomfort? And how do we know, given the lack of details on what has been proposed to try on Charlie, this is the same treatment?
The last issue is one I mentioned above: that the kids who have reportedly been treated for a mitochondrial disorder have a *different* disease than Charlie. While visible disease symptoms may be similar, on the biochemical level these diseases are very distinct. So, even if there were an FDA approved drug for tk2 deficiency, and it had a well-defined safety and efficacy profile, it could still be useless for Charlie because its mechanism of action is completely ineffective against the defective RRM2B enzyme in Charlie's mitochondria. Or here's a real-world analogy: if both you and I have a broken front door, the fix for my door won't necessarily work on your door. If I try straightening the hinges because doing that worked for your door, it won't help my door if the problem is that a spring in the latch mechanism has sprung.
This dr believes he can help Charlie. That’s good enough for me.
‘The judge in the infamous Charlie Gard case has allowed the name of the expert neurologist who thinks experimental therapy will help the infant boy to be revealed. The expert is none other than a Harvard-trained neurologist who is a professor at the prestigious Columbia University.
Michio Hirano, MD, is a Professor of Neurology at Columbia. Hirano serves as Chief of the Neuromuscular Division, Co-Director of the CUMC Muscular Dystrophy Association clinic, and Director of the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases. He evaluated patients with myopathies and other neuromuscular disorders. Dr. Hirano received his B.A. from Harvard College and M.D. from the Albert Einstein College of Medicine. At the Columbia University Medical Center (CUMC), he did his neurology residency training and a post-doctoral fellowship in neuromuscular genetics under Drs. Salvatore DiMauro and Eric Schon.
Hirano’s research focuses on mitochondrial diseases and genetic myopathies. He is participating in the clinical trial of idebenone for MELAS patients. Together with Co-Principal Investigators, Drs. Salvatore DiMauro and J.L.P (Seamus) Thompson, Dr. Hirano is co-directing the North American Mitochondrial Disease Consortium (NAMDC).
Hirano serves on the NIH Therapeutic Approaches to Genetic Diseases (TAG) study section, Medical Advisory Committee (MAC) of the Muscular Dystrophy Association, and Scientific Advisory Board of the United Mitochondrial Disease Foundation.
Charlie suffers from a rare genetic disorder, mitochondrial DNA depletion syndrome, which can cause weakened muscles and organ dysfunction, among other symptoms, and though his parents have raised money for additional treatment and hospitals around the world have volunteered their services, hospital officials have refused to allow the infant to be released to his parents. Hirano is clearly an expert in the field and a specialist who is intimately familiar with Charlie’s condition.’
http://www.freerepublic.com/focus/f-chat/3569185/posts