when we get break through for complete cure of DMD?

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If I were a betting man, I would bet that there will be much, much better drug choices for slowing down the progress on the market in the US and Europe in about three to five years. These will be mutation specific drugs that slow down the muscle degeneration, and might not cover all of the patients, and none of them will restore degenerated muscle tissue, though I hope that children who are still growing might be able to recover some abilities as their bodies continue to make new muscle cells. A couple of years after that we'll start to see drugs that aren't mutation specific. I have no idea when, if ever, we'll see things that will restore degenerated muscle tissue. Maybe I'm naive, and maybe there are patients and parents who felt the same way ten years ago only to be disappointed, but thinking this way gets me through the day.
Hi Paul:

How old is your DMD son? Obviously you've got him on steroids, right? When did the diagnosis come down? Were there symptoms you noticed prior to diagnosis?
You seem up to date on a number of topics and I love your ability to think so positively. I just see the end today. Our son will be none in November and was just diagnosed last June. He hardly had any symptoms that would lead anyone to think DMD - no floppy baby, no trouble reaching milestones in sitting up and he walked by 16 months on his own. He walked before than, but holding on. His only major sign was that he seemed a little uncoordinated with catching a ball and ran slower than his peers. All I read is about the symptoms of DMD being obvious by age 4 or 5. And those diagnosed at that age live into their early 20s. Just how long do these children respond to the drugs aimed at slowing progression? You mention other treatments coming down the line - do you really think they will help? I mean a cure for me is seeing my son still living - not only surviving, until 50 or longer. Is there a change that these drugs will allow our children that? I'm sorry that I;m having such a bad DMD day, but I need a little pick me up!!!!
Noreen
In retrospect, it should have been obvious to us that something was wrong with Alexander, who has just turned 10. He rolled over, crawled, walked and talked late. He never really learned how to run like other kids. He started falling a lot last summer when he was about to turn nine, which led us to having him checked by his pediatrician, who referred us to a really crappy neurologist who ran the CK test without bothering to tell me what it was for. I read the lab slip, saw the words "muscular dystrophy" on it and freaked out; it got worse when she called us with the test results.

My reasons for being positive are many. First, Alex has responded well to the steroids, he was visibly declining in the three or four months we spent talking to doctors before we started with the steroids. This convinces me that we have bought him some time before he loses the ability to care for himself. Secondly, Idebenone and Losartan are already FDA approved medications which will begin clinical trials to establish that they will be indicated treatments for DMD in the next year, possibly less. There are many reasons to believe that they will be effective, they will not be mutation specific, and because they are already FDA approved they will be on the market sooner than other experimental medications. These will provide further incremental benefit which will buy more time until the exon skipping compounds become available for those whose mutations will benefit from them, and the utrophin upregulators which will be of benefit to all, if they are effective, will be following on their heels. In the meantime treatments that we haven't even heard of are being investigated in laboratories all over the world.

A third reason for being positive is that it is essential to the mental health and survival of my son for me to be so. There could always be more money to advance those investigations, and it would be nice if the FDA worked a little faster, but that's where we can all help. Being down is normal and this place can be a an echo chamber of the emotionally distressed, but it's also the home of the brave who face this challenge and who are doing something about it. You're one of them. Gear up, the ride's going to be bumpy but we're going to get there.

Buried on the old website was an inspirational letter from a pediatric oncologist who reported that when he began his training in the 1970's the prognosis for most childhood cancers was little better than the prognosis for our sons. While our sons' prognosis has improved from near 100% mortality by their early twenties to a life expectancy of the mid or late 20's, the prognosis for childhood cancer includes cure rates of 70% or more depending upon the variety. His point was that we are on the threshold of a similar revolution, and I believe him. You should too.


irishgirl said:
Hi Paul:

How old is your DMD son? Obviously you've got him on steroids, right? When did the diagnosis come down? Were there symptoms you noticed prior to diagnosis?
You seem up to date on a number of topics and I love your ability to think so positively. I just see the end today. Our son will be none in November and was just diagnosed last June. He hardly had any symptoms that would lead anyone to think DMD - no floppy baby, no trouble reaching milestones in sitting up and he walked by 16 months on his own. He walked before than, but holding on. His only major sign was that he seemed a little uncoordinated with catching a ball and ran slower than his peers. All I read is about the symptoms of DMD being obvious by age 4 or 5. And those diagnosed at that age live into their early 20s. Just how long do these children respond to the drugs aimed at slowing progression? You mention other treatments coming down the line - do you really think they will help? I mean a cure for me is
Hi Paul:
How is your son doing??? Do you have any new words of wisdom for me?
How are you doing?
Here's the article that Paul references...

http://www.parentprojectmd.org/site/PageServer?pagename=nws_res_cri...

“Parent Project Muscular Dystrophy: A Wake-Up Call”

Timothy P. Cripe, MD. PhD
Associate Professor of Pediatrics
Division of Hematology/Oncology
Director, Translational Research Trials Office
Cincinnati Children’s Hospital Medical Center

“Your child has cancer” is devastating news and until today I thought it was the worst news that a parent could receive. I now believe that “your child has Duchenne Muscular Dystrophy (DMD)” needs to sit at the top of the list. I am a pediatric oncologist and cancer researcher and unfortunately have had the opportunity to witness the ravages of a cancer diagnosis to both the child and the family. There is no question that the diagnosis of cancer is bad news, but I am proud to say that there has been significant progress in the field. We are at least running a reasonably effective offensive attack against many pediatric malignancies. Unfortunately, the same cannot be said for males affected by Duchenne Muscular Dystrophy.

Because my wife is a pediatric cardiologist, our family recently attended the closing banquet of the Parent Project Muscular Dystrophy annual meeting. At the meeting there were ~250 families affected by muscular dystrophy gathered together to promote research and education in DMD. At our table was an adorable, blond six-year-old boy named Charlie. He had that generic “healthy boy-look,” with no outward difference apparent from my two sons, who were seated across the table. However, there was an important difference. Charlie is a ticking time bomb as he was recently diagnosed with DMD. If there are no significant research advances made soon, Charlie will face certain death sometime within the next 10-15 years. And it won’t be pretty. It will be a slow, painful, downhill spiral. Charlie will eventually lose the ability to walk followed by the ability to breathe. His heart will slowly lose its ability to function. At this moment in time, there is little that anyone can do about it. Unfortunately, medical science has not orchestrated any effective treatment strategies against the disease that is slowly destroying the muscles in his body.

Thirty years ago, that’s the way it used to be with many types of childhood cancer: almost guaranteed death. We can now cure nearly 70% of children with cancer. Forces in the U.S. were mobilized with a 1972 Presidential declaration of war on cancer, and legions of scientists and doctors worldwide have since spent countless years and dollars investigating the biology and treatment of cancer. Childhood cancer afflicts 1 in 300 children < 20 years old in the United States (data from the National Cancer Institute SEER Program). That number includes many readily treatable forms of cancer. Because of hundreds of clinical trials conducted by multiple cooperative groups, only about 1 in 1,000 children die from cancer. As a result of these efforts, hearing that your child has cancer is no longer a death sentence.

The incidence of DMD is 1 in ~3,000 male births. However, in contrast to cancer, DMD currently is uniformly fatal. As a result there is only a 3-fold difference in the number of childhood deaths due to cancer vs. DMD, but DMD research is relatively scarce. A search of the NIH website for open clinical trials (http://www.nih.gov/, searched 7/18/03) revealed 2,368 for cancer, including 936 that were open to children. There were only 3 for DMD, a 300-fold difference. The paucity of research may be the reason that there is no cure for this devastating neuromuscular disease. Without research, there is no hope. Shouldn’t all people at least been given the chance to hope?

Why the disparity in resource allocation? Why has no war been declared on muscular dystrophy? Whatever the reason, it’s time to change. Every person, even a blonde little boy, should at least be able to face tomorrow with hope. Having the opportunity to meet Charlie and his family was a wake-up call. Thank you, Parent Project Muscular Dystrophy.


UPDATE
In the three years since my initial writing glimmers of hope have emerged, though the emphasis needs to be placed on“glimmers”. There is more research, and some forward progress. Compared with cancer, there still remains a large and significant disparity, but no longer only despair. In a search of the NIH website of clinical trials (http://www.clinicaltrials.gov/) performed nearly 3 years later (June 7, 2006), there were 5,016 cancer clinical trials, up 2-fold in 3 years, with 1,332 of them including children, up 1.4-fold. In contrast, the number of muscular dystrophy trials has increased 6-fold…from 3 to a whopping 18. At least 1 gene therapy trial has begun, and based on the scientific advances presented at a recent meeting of gene therapy researchers this month in Baltimore, more are certain to follow soon. I am led to believe that, although its breaths are only a sputter, hope is alive.

There is no doubt that much of the progress has resulted from the tireless efforts of such groups as the PPMD. Be it fund raising or awareness raising at individual and government levels, PPMD is making an impact. The timing couldn’t be better, because just as PPMD is hitting its stride, the federal government is on the skid. Other national concerns have taken priority some with good reason and research has suffered. Household words such as 9/11, Katrina, Tsunami, War on Terror, and bird flu have siphoned money from public and private sectors.

To illustrate the effects that the decline on available federal research funding has had, let me again share with you my own personal experience. I was recently fortunate enough to receive a 5-year grant from NIH for my cancer research. To submit a large NIH grant is no small feat, and not for the faint of heart. Most if not all of the grants submitted are from smart, highly-educated, professional, well-trained people with good ideas. Yet there is only enough money to fund the top 11% of grants, down from 17% last year. Rumors are that it might go down to 9% soon. It is true that grants get resubmitted by the same investigators, so the percentage of projects or investigators that eventually receive money is in the 20% range. Still that means that 80% of ideas don’t receive federal support.It is also important to understand, resubmissions waste precious time the turn-around from submission to resubmission usually exceeds 6 months, and from resubmission to receipt of money is 10 months. In my case I had to resubmit twice, so the total time from submitting my first proposal to getting the money to do the work exceeded 2 years. That means 2 years longer to make a discovery, and if the discovery leads eventually to a new treatment, 2 years added to one step in the process until it reaches the patients. Multiply 2 years times all of the research projects, times other required steps, and how many kids will have died while waiting for the research to become reality?

The problems unfortunately do not stop there lets now discuss the funding gap. The NIH is trying to stretch its budget as far as possible, so the actual amount awarded to each grant is shrinking. During the review process, the reviewers thought I could do the work for 11% fewer dollars than I proposed. On top of that, once the grant was funded, the NIH made a now-standard administrative 29% cut in the budget. Thus the actual amount I was awarded was 40% less than I needed! My friends, I can only do 60% of the research for 60% of the money. Financial constraints are changing the outcome in a significant and negative way.

Until the day, should it ever come, when the government can return to a robust research portfolio, if we want 100% of the research done then we have to find the other 40% of the money, if only to bring funding up to 100% for the top 20% of projects. We need even more to not lose the other 80% of research or worse, to not lose the other 80% of disenchanted researchers. PPMD and other groups like it are needed now more than ever. Children with DMD will benefit from the fact that the organization is able to mount an effective attack on DMD during a time when the federal government is wounded. It’s clearly a good, promising start in helping close the gap. Because of PPMD I and others areat the starting line tennis shoes on ready to run, but the marathon has just begun, and there is no time to take a walk to catch your breath. Like for Robert Frost, in the race for a cure there are still “…miles to go before I sleep, and miles to go before I sleep.” At least now I do have hope we’ll cross the finish line.
On the note of optimism. I look at the the papers being published for the stem cell cure of DMD, and feel that the reportings on stem cell are just like the reports of Exon skipping about 3 to 4 years back. At this stage there is a general feeling that exon skipping drug will be available in about 5 years max.

With stem cell cure this period of 8 to 10 years of drug discovery and clinical trials should be cut short to 5 to 6. The 3 years gain with stem cell should be from the clinical trial phases that are used to proove effective dosage and toxicity. We are very narrow to the exact stem cell that would regenerate the muscles. As soon as we are able to transfer a good stem cell to a new person, without triggering a immune reaction we have the cure in place. The Phase 2b, phase 3 and phase 4 stages of clinical trials are really not needed.

Pray for all those who fight this disease in their bodies, in their homes and in their laboratories.

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