For a century the disorder was considered to be untreatable. Only 40 years ago the patients’ “natural” age at death was 15 years. In those days the physicians left most of their
patients untreated in large sickrooms until they died, usually from a lung infection. Only a few researchers wanted to investigate the etiology of the disease or to develop a therapy for it, because such engagements seemed to be without promise of success. Today we know that the affected gene product constitutes such a small amount of protein in the muscle cells that it was unlikely to be detected by conventional biochemical techniques. Since the cause of DMD was unknown the physicians Inhibitors,research,lifescience,medical tried Inhibitors,research,lifescience,medical on the
off-chance a great number of drugs that had been effective with other diseases (1, p. 214): none of them worked out! When in 1986 Lou Kunkel (2) isolated the so-called Duchenne gene and one year later Eric Hoffman (3) described its product, dystrophin, not only did all researchers and physicians, but also all patients and their parents believe that this would quickly open the Inhibitors,research,lifescience,medical way to a causal therapy. Today, a quarter century later, the end of this journey may be – more or less distinctly – in sight: INK 128 nmr availability of the much anticipated gene therapy. But even today we cannot predict when we will have completed this journey. The kind of gene therapy that is currently believed to have the greatest
chances of success, namely “exon skipping” (4), will be applicable to about 80% of patients. But at present it is being developed and clinically Inhibitors,research,lifescience,medical tested in a phase- III trial for only those 13.0% who need the skipping of their exon 51 of the extremely large gene. For all the others, many more so-called “personal Inhibitors,research,lifescience,medical therapies” and other more conventional forms of treatment will have to be developed (regularly updated status report [5]). Obviously there are still many obstacles on this route and nobody knows when they will be removed. The parents, who see the strength of their children’s muscles wane every day, are desperate. 4-Aminobutyrate aminotransferase Some of them accuse the physicians of this failure; others try to find themselves sources to accelerate research into gene therapy. But is the situation indeed so hopeless for the Duchenne families? Let us briefly look at their general situation: how has it changed in the time span since the discovery of the dystrophin gene? There are many positive factors in support of genetic counseling. At least in the developed countries the often quoted figure for the incidence of DMD of 1 in 3500 male births is not true anymore. An effective figure is not available, but there is no doubt that the incidence has decreased in conjunction with progress in prenatal diagnostics (6).