how and when these two words would sum up the anxiety of parents of DMD children. wait is ok but how long

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I hear you. I am sure we all feel the same way. As I wonder about this as well, the best thing we can do is to find a way to get more funding for DMD reseach. Last year, we both(me and my husband) were workign so we could contribute some. This year I stopped working and trying to come up with ways of contribution. We started using iGive for all our purchases and so far some amount has gone towards PPMD. It is a good way to contribute without having to take out any extra from your pocket.
We live in the most advanced country in the world and I know that a cure can happen soon if there is enough funding.
Hi BP-

If only we had answers. The waiting is going to be long no matter how quickly the cure comes because we parents are on the edge everyday. Best case, my husband and I estimate a valid treatment (not a cure) should be arriving anywhere between 3 to 5 years. I am referring to the exon skipping thing that is underway right now. Exon skipping will halt the progression in many DMD boys, providing more time for a real treatment and making the agony of waiting a little easier.

We find doing something, anything, to benefit other DMD boys and make our son's life easier and more fulfilling every single day is the thing to do while waiting. Every day my son's muscles die a little bit more therefore everyday I must do something, spend more time that day with him, do things he likes to do, continue with medical care issues, researching the web for answers, communicate with other parents, educate friends, family, teachers, doctors, about DMD, find donations, exercise and eat healthy to stay in shape so I can lift and carry more, forgive myself for not doing everything, take a break when possible, remember to stop and smell the roses, allow the tears...and so on. These things are done in addition to life's daily normal routine. Normallacy is good for my son.

This is how I fight for my child's life while waiting. It uses up sadness and negative energy I get from this disease.

I hope it adds a layer of good "karma" somewhere, maybe for you too.

cheryl
Hello Everyone!
I'm 18 year old girl & have DMD also.
Everyday is a struggle living with this disease, My family & Friends cannot wait for a cure!
We are working hard & keeping faith in God!
I hear everything you are saying. I hope someone responds to this with DEFINITE answers. Experimental tests look promising. Why such a long wait??
I bet we'll start getting real answers late this year on exon skipping, and this time next year on losartan and idebenonne.

I think the long wait is because you can't administer an experimental drug to humans in the US unless your experiment is approved by the FDA, and in Europe there is a similar regulatory agency. Since DMD moves slowly, the regulator's natural tendency would be to want the tests to run for years before concluding that the drug is safe and effective. The FDA is hypervigilant about experimental drugs because of abuses by big Pharma companies in the 50's and 60's which used the previous exemption for FDA approval for "experimental" drugs to covertly mass market things like thalidomide before safety had been established. Since DMD is lethal and there is no effective treatment, the FDA has the authority to be more flexible than they would be for yet another headache pill. Fortunately, the researchers, with help from PPMD and other patient advocacy organizations, have convinced the FDA to accept a six minute walk test after six months of the administration of an experimental drug as a valid measure of whether a drug helps or not. That regulatory decision has only happened in the last couple of years, possibly even last year. Now the experiments won't need to run as long, which makes them more economically feasible. As a result there will be more of them.I try to live in the hope that things which really help and buy time for all of us will start falling out in the next couple of years.

For more detailed info, go to clinicaltrials.gov, and search for "duchenne"
Waiting is the frustrating part, however as science has found in the past extensive testing must be performed on treatments prior to them being approved as an effective treatment. (I quote wikepedia: http://en.wikipedia.org/wiki/Thalidomide ):

"Thalidomide was chiefly sold and prescribed during the late 1950s and early 1960s to pregnant women, as an antiemetic to combat morning sickness and as an aid to help them sleep. Before its release, inadequate tests were performed to assess the drug's safety, with catastrophic results for the children of women who had taken thalidomide during their pregnancies."

Researchers must not only look at the efficacy of the treatment for the boys, but for the long term ramifications of genetically modifying the human genome. It is one thing to "fix" Duchenne for some-ones son, but a whole different kettle of fish if it then has severe ramifications down the track....

The scientific community must exercise the same caution when "genetically modifying" our children as they would when producing GMO crops. They must ensure that there will not be epigenetic consequences, that the delivery system maximises uptake in the targeted cells, and that it can be delivered in a viable, humane way (no good having a treatment that requires 200 injections into each muscle group every 2 weeks). Even though they are correcting a fault in a gene, they are still manipulating the genome, and as such are exercising extreme caution and assessing the long term risks of such treatments.

While this doesn't help us living in the here and now, I certainly would rather wait and have the option of a treatment that has been extensively tested and found to have minimal long term ramificaitons, than push for treatments to become available before they have been fully assessed, and have to live with the consequences if (God forbid) it actually decreased my sons life expectancy due to some unforeseen complication.

We live life expecting no treatment in our sons lifetime which may seem negative, but we call it the lottery mindset. (If you buy a lotto ticket expecting to win and you don't you're disappointed. If you buy one expecting to lose and you get a few numbers and maybe $20 you are excited.)

So we expect no cure/treatment and if it happens, it will be better than winning the jackpot in the lottery. In the meantime we make every minute count as that is something we can control, and it doesn't need extensive testing or FDA approval :-)

Alisha Ballew said:
I hear everything you are saying. I hope someone responds to this with DEFINITE answers. Experimental tests look promising. Why such a long wait??
I misspoke. The surrogate endpoint for PTC 124, and likely all other DMD treatments on the horizon is, a six minute walk after one year of administration.

Paul Cliff said:
I bet we'll start getting real answers late this year on exon skipping, and this time next year on losartan and idebenonne.

I think the long wait is because you can't administer an experimental drug to humans in the US unless your experiment is approved by the FDA, and in Europe there is a similar regulatory agency. Since DMD moves slowly, the regulator's natural tendency would be to want the tests to run for years before concluding that the drug is safe and effective. The FDA is hypervigilant about experimental drugs because of abuses by big Pharma companies in the 50's and 60's which used the previous exemption for FDA approval for "experimental" drugs to covertly mass market things like thalidomide before safety had been established. Since DMD is lethal and there is no effective treatment, the FDA has the authority to be more flexible than they would be for yet another headache pill. Fortunately, the researchers, with help from PPMD and other patient advocacy organizations, have convinced the FDA to accept a six minute walk test after six months of the administration of an experimental drug as a valid measure of whether a drug helps or not. That regulatory decision has only happened in the last couple of years, possibly even last year. Now the experiments won't need to run as long, which makes them more economically feasible. As a result there will be more of them.I try to live in the hope that things which really help and buy time for all of us will start falling out in the next couple of years.

For more detailed info, go to clinicaltrials.gov, and search for "duchenne"
Why such a long wait? Is a valid question. There is no "really good" reason, other than paperwork and beuarocracy. I've spoken to many researchers in this field during my visits to the conferences and I have not received a response I'm comfortable with. It pretty much boils down to a tedious paper trail and long waits for responses and verification/validation from governing officials. The actual "work" involved may actually be 3 years and that is what they all say "3 to 5 years" because that is their point of view. In reality it ends up being 5 to 10 years when you add all the overhead. The next question then becomes, Is the overhead necessary? I heard some say yes but it can be improved many times over. So why isn't it? This is not the researchers problem since they have to follow rules set forth, but how do you go about changing such a process that has been etched in stone for so many years?

Why can't they have embedded FDA officials in the trials/research labs? Why does the verification/validation feedback need to take so long? Does the results sit in a queue? Does it get picked up quickly and they have to spend the time understanding it. If so why can't they be involved during the whole process so there is no learning curve? If all this overhead doubles the time it seems to be a valid area for performance improvement.
FDA officials do not get rewarded if a lifesaving drug is approved. If a drug is approved that kills or injures people then the regulators involved get reamed out in hearings before Congress, fired, or as has happened in some other regulatory agencies, sued or even prosecuted criminally if it turns out that they had some improper conflict of interest. As a result, they are in no hurry to do anything quickly, and when ever they pushed, they point to thalidomide and sulfanilamide. Keeping their feet to the fire is part of our duty is advocates. I don't know if you caught it at the advocacy conference, but Ms. Furlong, as part of her intro for the dude in the sailor suit from the FDA's orphan drug program, said something like, "He only agreed to come if I promised that we wouldn't hang him. I did promise that we would not hang him - this time." She wasn't really smiling.

If the researchers get back to us if they get stymied, then we can go to work on the people in Congress who voted for the MD-CARE Act reauthorization, and then get their staff to call the bureaucrats and their bosses. Researchers might be reluctant to complain to us because they feel retaliation, but things like this summer's conference would be a real opportunity to find out where those roadblocks are located so that our friends in Congress can apply both light and heat
.

MarcosDad said:
Why such a long wait? Is a valid question. There is no "really good" reason, other than paperwork and beuarocracy. I've spoken to many researchers in this field during my visits to the conferences and I have not received a response I'm comfortable with. It pretty much boils down to a tedious paper trail and long waits for responses and verification/validation from governing officials. The actual "work" involved may actually be 3 years and that is what they all say "3 to 5 years" because that is their point of view. In reality it ends up being 5 to 10 years when you add all the overhead. The next question then becomes, Is the overhead necessary? I heard some say yes but it can be improved many times over. So why isn't it? This is not the researchers problem since they have to follow rules set forth, but how do you go about changing such a process that has been etched in stone for so many years?

Why can't they have embedded FDA officials in the trials/research labs? Why does the verification/validation feedback need to take so long? Does the results sit in a queue? Does it get picked up quickly and they have to spend the time understanding it. If so why can't they be involved during the whole process so there is no learning curve? If all this overhead doubles the time it seems to be a valid area for performance improvement.
Paul: I'm not quite sure what you meant when you said "after one year of administration, it is a six minute walk." Does that mean after one year of administratrion, these drugs would quickly be approved and on the market? Forgive my ignorance. Terry Porcaro
I apologize for being unclear. For PTC 124, and one would expect, all other treatments to be administered for DMD patients who are still walking, the measure of success would be a comparison of the distance a patient could walk in six minutes at the beginning of the trial with the distance the patient covers in six minutes one year (12 months) after the trial begins.


See, for example: http://www.clinicaltrials.gov/ct2/show/NCT00592553?term=ptc+124&...

Unfortunately, it took literally years to convince the FDA that this was a good measure of success for a dmd drug. I don't know if that was the sole reason or even a significant reason for why clinical trial progress on PTC 124 has been so slow, but it's at least illustrative of the mindset that drug developers have to deal with.

Even if the drug developers establish that a given drug will achieve a statistically significant improvement in performance at the end of that year, then the FDA still has to review that data and approve it before a drug can be released.

Terry Porcaro said:
Paul: I'm not quite sure what you meant when you said "after one year of administration, it is a six minute walk." Does that mean after one year of administratrion, these drugs would quickly be approved and on the market? Forgive my ignorance. Terry Porcaro
Paul: Thank you for clarifying your statement for me. If it took years just to get the FDA to recognize that the six minutes walk is a way to measure the success of a drug or therapy for DMD, how are we ever going to get anything going? It seems to me that Marco's Dad is correct when he asked, "Why can't they have embedded FDA officials in the trials/research labs", especially in critical illnesses such as Duchenne's. This way we would be skipping the step of having to wait so long for FDA approval because they would already have been there throught the process. Seriously, is there a way to accomplish this or am I be completely naive? Terry Porcaro

Paul Cliff said:
I apologize for being unclear. For PTC 124, and one would expect, all other treatments to be administered for DMD patients who are still walking, the measure of success would be a comparison of the distance a patient could walk in six minutes at the beginning of the trial with the distance the patient covers in six minutes one year (12 months) after the trial begins.


See, for example: http://www.clinicaltrials.gov/ct2/show/NCT00592553?term=ptc+124&...

Unfortunately, it took literally years to convince the FDA that this was a good measure of success for a dmd drug. I don't know if that was the sole reason or even a significant reason for why clinical trial progress on PTC 124 has been so slow, but it's at least illustrative of the mindset that drug developers have to deal with.

Even if the drug developers establish that a given drug will achieve a statistically significant improvement in performance at the end of that year, then the FDA still has to review that data and approve it before a drug can be released.

Terry Porcaro said:
Paul: I'm not quite sure what you meant when you said "after one year of administration, it is a six minute walk." Does that mean after one year of administratrion, these drugs would quickly be approved and on the market? Forgive my ignorance. Terry Porcaro

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