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
I had seen Hirano's name mentioned before, but not that he is specifically the doctor that the parents had pinned their hopes for a miracle on.
Earlier today, I referred you to a post that I wrote a couple of days ago, in which I specifically analyzed Hirano's work, as well as other literature in the field.
Hirano has treated genetically modified mice for a thymidine kinase 2 defect, by feeding them deoxyribonucleotides. He did not cure those mice, but prolonged their lives [before they succumbed to the disease]. I do not know, because the article describing the work is behind a paywall so I could only read the abstract, how long their lives were prolonged. Is it prolonged by 5%? One week?
And I will bring up again the fact that the disease little Charlie has is *not* thymidine kinase 2 deficiency, but is a result of a mutation in the ribonucleotide reductase small subunit B gene (RRM2B). Different genes involved, different mechanisms of pathology--even if on the gross physiological level, the symptoms of the disease appear similar. With my expertise as a biochemist, I do not see a biochemical rationale for thinking that a treatment for the one condition will have *any* effect on the other condition.
My other objection is one that I have already mentioned, and is related to the drug development pipeline. Testing a putative drug in cell culture or in rodents is a *long* way from testing it in clinical trials, and even further from its use in the clinic. One of the reasons that new pharmaceuticals are so expensive is that for every successful drug that makes it to FDA approval, something like 150 putative drugs were tested and discarded for various reasons. Hirano's testing is extremely early stage, still several years out from clinical trials. For ethical and moral reasons, drugs at this stage of development are not offered to human patients.