OT - Petition to save kids with Muscular Dystrophy

Submitted by chris16w on March 6th, 2014 at 7:52 PM

Dear MGoUsers,

My wife and I are proud Wolverines and aunt and uncle to a boy who is living with Duchenne Muscular Dystrophy, the leading genetic killer of children. A drug that is currently in clinical trials has stopped the progression of this previously incurable disease in all trial users. However, this drug only addresses one of the genetic mutations that cause DMD.

The petition linked below asks the FDA to approve this drug on an accelerated timeline (normal approval takes four years). Accelerated Approval will help get this drug - and variants of it that help boys with different genetic mutations, like our nephew - to the kids who need it to be available now. For our nephew and thousands of other boys, this could be the difference between life and death. 

This petition is part of a larger campaign you can read about here.

Sign the Petition.

Thanks for your attention to this OT issue. We recognize that the size and compassion of this readership is a powerful force.



March 6th, 2014 at 8:04 PM ^

I can sympathize, but I prefer that drugs go through proper trials. If the results warrant it, they get fast tracked anyway.

Don't you want to make sure that the drug actually works before your nephew takes it?

Jaqen H'ghar

March 6th, 2014 at 9:16 PM ^

Might not be true in this case, but if a drug they're testing has worked every time for a period of like 6 months with no side effects why wouldn't they approve that as soon as possible? I would assume within that time they would know of any mutations that may happen to the targeted disease


March 6th, 2014 at 10:32 PM ^

It can't really work like that for a few very good reasons. 1) Six months is not a longterm study. Quite often 6 months isn't even the entire length of treatment duration. 2) If it were possible to fast-track or circumvent the clinical trial process the pressure to generate results would likely cause an increase in fabricated results or improper testing. 3) Side effects of treatments sometimes take quite a long time to arise because while everything may seem in order some undetectable negative physiological response may have begun. For example if a treatment had the side effect of creating dilated cardiomyopathy that may not develop for a few years once treatment has begun. Many disease states are a slow progression. The argument that the side effects may not be worse than the disease is very personal and weighs very heavily on patients, their families, and clinicians. That's why the possible side-effects need to be as well-known as possible before an individual undergoes treatment. That is what the clinical trial period is for; to flesh out the benefits and drawbacks to a treatment so that future patients, families, and clinicians can make informed decisions. I realize that isn't what the parent of a patient with a terminal illness wants to hear RIGHT NOW with the very real prospect of watching his or her child suffer and finally pass, but that's the unfortunate reality. 

Doc Brown

March 6th, 2014 at 8:07 PM ^

Same with the other poster. I sympathize with your situation but the FDA has its timetable for a reason. It is to protect the public from unproven treatments. It is amazing the pace of medical researcher (a 2nd baby was cured of HIV this week). We need to let science progress at its own pace.


March 6th, 2014 at 8:13 PM ^

we had an oral chemo drug that started off very successful and within the last 2 months over half the participants have either died or experienced advanced disease progression. Trials do serve a purpose and advanced approval can be good in the short term, but at what cost.


March 6th, 2014 at 8:38 PM ^

the gene therapy for cystic fibrosis was very promising in early stages in repairing the cftr defect in mucosal lining...until the vector used to administer the altered gene resulted in fatal pulmonary edema


March 7th, 2014 at 1:43 AM ^

I often wonder why so many people were born to suffer yet most of them are the happiest people you'd ever meet. God bless people like you.


March 7th, 2014 at 2:12 AM ^

My thoughts and prayers go out to the original poster and their nephew.

The drug is made by Sarepta and is a new approach that represents a critical step forward in the fight against Muscular Dystrophy. The company had discussions with the FDA about applying for a 'Fast Track' approval to shave years off the time to market for the drug. This was based on very promising results from their efficacy trial. The FDA was not in favor of the company applying for the fast track consideration.

I can explain more about why they had that opinion, but first I have to clarify that the drug had already passed all the saftey trials in previous studies. Neither the control group of healthy individuals or patients with Muscular Dystrophy had any side effects other than the shots hurt. Another drug company with a similar approach did have some potential kidney issues, but this drug had no such issues.

FDA expressed concern on three areas. The first was the small sample size. That is valid and bad design by the company. The second area was the criteria used to measure efficacy. The primary test was if the patients expressed Dystrophin in muscles that were biopsied. All test subjects produced what is thought to be clinically significant amounts of Dystrophin, which is the substance thats absence causes the muscle cells to die in kids with Muscular Dystrophy. The FDA was not sure if the expression of Dystrophin would make a difference. Other studies are rather clear that it does. The other marker was the six minute walk test. Patients would walk for six minutes and see how far they made it. The FDA expressed concern over the variability in the results of the subjects. Unfortunately, the nature of the disease causes that variability as the subjects have good days and bad days. The parents of the subjects all report increased strength and stamina in both core and limb muscles, but if the test is on a 'bad day' the distance might not be statistically better.

After the FDA didn't recommend the company apply for the fast track, a group of medical professionals, parents, and scientists unrelated to the company held a conference with the FDA to build greater understanding. It was readily apparant to everyone at the meeting, including the three FDA representatives, that the didn't understand the nature of the disease process. However incredible as this may sound, it is reasonable as the FDA hasn't had previous experience with muscular dystrophy as there are no meaningful treatments that have been considered. Further follow up by advocacy groups has helped bring the FDA up to a higher level of understanding. This is a credit to the FDA admitting what they didn't know.

One thing that has been shown in the trials is that the medication showed a significant increase in pulmonary function in the boys. This is most often the cause of death in the mid to late teens. While I cannot say if the drug will be the miracle that the parents of the test subjects claim it is, I can say that if it does some meaningful good and has shown no harm, then it should be up to parents to evaluate and decide if it is right for them.

I don't mean to hurt anyone feelings, but some of the above posts are misguided. I do want to know the drugs are safe and work. If there were other options, I would also want to know which one worked best. However, holding up what could be the first meaningful treatment because there might be side effects years down the road is insane. These children will certainly waste away and die from muscular dystrophy. The list of acceptable side effects to "Not dying" is a pretty long list. At no point has anyone considered stopping the study and tracking of patients taking the medication. The desire is open up the drug to patients and following what happens. This is not perfect, but it will potentially help those kids and discover if there are any harmful side effects when used with a large population.

This is a subject I know well, but not because I am a doctor or scientist. I am just a father. A father of a twelve year old boy with Duchenne Muscular Dystrophy who hopes to follow his parents to Michigan. The extended testing some have suggested is the right way to go will likely result in his death before he turns 18 along with tens of thousand others just like him. Please, if it will not compromise your principles, sign the petition to help get the FDA to consider giving me the opportunity to choose if we want to accept the risks for a chance at life for our son.

Thank you for reading this. Please forgive my lengthy post in light of the subject matter. Frank.


March 7th, 2014 at 7:11 PM ^

Just so you know, there are other mechanisms through which the company can make the product available to more patients.  Companies do this all the time in areas where stakes are high for patients.  They can create an Expanded Access Protocol that allow patients to get access to an investigational agent outside of a clinical trial (technically, most EAPs are run as clinical trials -- but they are much less restrictive in terms of who can qualify for them -- restrictions are generally determined by the manufacturer.)

Speaking from experience, the FDA is very hesitant to approve therapies based on surrogate endpoints.  i.e., drug improves dystrophin, and separately dystrophin is known to be good.  FDA wants to skip that middle step and have results of drug doing good.  Prospectively (retrospective analyses can be highly flawed).

Not justifying, just explaining.

Wishing you all the best.


March 8th, 2014 at 12:58 AM ^

Thank you. 

The reality for us is that drugs like this could be the miracle that buys us time.  The underlying reality is that the drug companies have financial concerns that they must attend to.  It stinks, but that is also the motivation for the companies to work harder to be the first to market.  I hope they will allow the expanded access.  One family has two sons.  The older was six months too old to participate in the study.  Identical gene deletions.  The younger is gaining strength and abilities, which is unheard of at his age while the older brother is losing them.  The only difference is the study medication.  The family has done everything they can think of to get the drug for their older son.

I hear you about the surrogate endpoints.  The silly part about this one is that the lack of the dystrophin is the cause of the disease and this approach produces statistically significant amounts of it.  One challenge is that with the absolute dearth of treatment options, there has been very little work done to establish what a suitable endpoint measure would be.  Walking six minutes is the default, but many of the kids who are old enough to participate in the study have or are about to lose the ability to walk altogether.  In this study, those kids still saw great pulmonary improvements, which are also unheard of in the disease process.

I appreciate that you took the time to engage and post.


March 7th, 2014 at 2:41 AM ^

The drug is Eteplirsen.  The petition is not drug specific, but a general call to ensure the FDA uses the most understanding criteria in reviewing treatments for this 100% fatal disease.

ParentprojectMD.org has a bunch of great information.  At one point, you could watch a video of the conference with the FDA.  It is clear they care, but were largely ignorant of the disease and the effects it has on the boys.

Duchenneconnect.org has a tab for clinical trial that goes into some good detail about this trial.

It has been going on for 74 weeks as of October of last year.  After six months, the children getting the placebos were switched and continue on the medication without side effects.

I have communicated with 5 of the twelve families and the anecdotal benefits are impressive.

Thank you again for your support.