Why Children’s National Medical Center, and why the Cooperative International Neuromuscular Research Group? It is a coincidence, not a cause, that both families’ children are being seen at Children’s National Medical Center. The reality is that the Children’s research, led by Dr. Eric Hoffman, who was on the team at Harvard who discovered the dystrophin gene in 1986 (and the first scientist to clone the gene), is among the most aggressive in the world. As clearly one of the top two or three most accomplished and published scientists in this arena, Hoffman leads one of the most sophisticated and cutting-edge laboratories conducting genetic research, and his passion for decades now has been to drive treatments into the marketplace for this generation of sufferers of Duchenne Muscular Dystrophy.
While this may represent an oversimplification, much of the great promise of Hoffman’s research is that he, almost alone in the scientific universe, has the capability (and financial muscle in his large lab) to unravel the cascade of the genetic expression of Duchenne Muscular Dystrophy. This work is leading to multiple targets for the broader scientific community to “shoot at” as treatments (and even potential cures) for DMD. Because of Hoffman’s research, DMD sufferers needn’t have all their eggs in the basket singularly of fixing the flawed dystrophin gene either through gene therapy or manipulation of stem cells.
Admittedly, some of the treatments that could arise from this research may be long-term goals. And parents of Duchenne Muscular Dystrophy kids, no matter the age, are filled with desperate needs for research that will, at a minimum, slow the progression of the horrible DMD curve while the ultimate ‘cure’ is being sought. Hence the Foundation to Eradicate Duchenne’s commitment to the Cooperative International Neuromuscular Research Group, an elaborate network of 20 institutions in 10 countries actually engaged in clinical trials on kids with Duchenne Muscular Dystrophy. The Foundation to Eradicate Duchenne is the largest private contributor to this network.
The Cooperative International Neuromuscular Research Group was formed by Dr. Diana Escolar, Erik Henricson and Dr. Eric Hoffman during the year 2000, lead since its conception by Dr. Escolar. The immediate purpose of CINRG is to take FDA approved drugs and other non-regulated supplements (such as sports-medicine supplements) that seem to delay the progression of Duchenne Muscular Dystrophy in laboratory animals and run trials on DMD kids to see if they have a similar effect. While most clinical trials take about 3 to 5 years to complete, this group has developed and is conducting 7 protocols in the 3 years of its existence and there are some encouraging early results The current thinking is that DMD treatment will not be one ‘silver bullet,’ even if gene therapy is ever a reality, but rather a combination (cocktail) of these drugs and supplements and perhaps other genetic modifying therapies. Certainly, these first trials are steps along the way that can improve the quality and length of lives for children (and adults) with Duchenne Muscular Dystrophy.
Support for the clinical trials network is absolutely essential. Many parents and organizations focus their efforts on the long-term goals of gene and cell therapies that will ‘fix’ the genetic flaw, and we applaud this. But there are two points to be made. The first is that we have heard scientific presentations from researchers around the world, and none of them, even the most optimistic among them, is willing to wager that full-fledged genetic repair of the dystrophin gene, or full-fledged dystrophin expression through whatever means, is going to be available in the marketplace during the coming five or six years. None of them. Secondly, even if some magical gift should fall down from the sky, the approval process of the Food and Drug Administration is extremely rigorous, expensive, and time-consuming.
Clinical trials are expensive, very expensive. They involve scores of highly trained professionals, hundreds of thousands of dollars worth of equipment to measure muscle strength, software programs to ensure that every kid is being evaluating according to the same standards, and a sustained effort to grow an infrastructure that can pass the muster of difficult governmental processes. In the Duchenne Muscular Dystrophy world, there is only one alternative for this network: the Cooperative International Neuromuscular Research Group. We are of the belief that if CINRG were to wither on the vine for lack of sufficient funding, there is little hope for major breakthroughs to come to the market that will impact this generation of those afflicted with Duchenne Muscular Dystrophy. Fortunately, due to governmental earmarks and private donations, the CINRG network is growing, and more drugs with encouraging potential are being lined up for trial in the coming year.
Visit the Cooperative International Neuromuscular Research Group for more information and current trials. Not only are funds necessary to sustain CINRG, but the patient pool of candidates for trials is essential, and we encourage all parents of Duchenne Muscular Dystrophy kids to consider whether their children – and the entire Duchenne Muscular Dystrophy community – could benefit from enrollment in any of the various clinical trials.