A mother's mission to save her sons - 8 News NOW

A mother's mission to save her sons

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KINGSTON, Mass. (Ivanhoe Newswire) -- Two brothers; one uses the stairs, the other a ramp. Both have Duchenne muscular dystrophy. The disease affects mostly boys, and usually kills them before their 21st birthday. However, 12-year-old Max is getting what some are calling a miracle drug. His 15-year-old brother Austin is not allowed to take the drug.

"This is actually completely ludicrous," Jenn McNary told Ivanhoe.She's their mother who is watching one thriving and the other slowly dying." I know my son will die if he doesn't get it," McNary explained.

What Austin can't get is a drug called eteplirsen. He wasn't eligible for the drug trial because he was already in a wheel chair, which is where all Duchenne muscular dystrophy patients end up. He has been in the chair since he was 10-and-a-half. His brother was headed to the chair too. Young Max was already using a walker, a cane, and occasionally a wheel chair, but he could walk six minutes on his own. That was the test so he got in to the drug trial three years ago. He now gets weekly infusions of the drug.

"We saw his disease progression halted," McNary said.

Halted, and even reversed. Max was walking better, running faster, and getting stronger. His weaker brother watched from his wheelchair.

"It is hard because it is there and I can use it but I'm not able to, and Max is on it and he's getting better," Austin told Ivanhoe.

"Some boys are running, some boys are playing sports," Christine McSherry, CEO of Jett Foundation, cofounder of International Duchenne Alliance, Kingston, Mass., told Ivanhoe.

McSherry said never before in the history of this devastating disease has a drug performed so well, ending the inevitable.

"Once those boys decline, they continue to decline, and they go into a power chair," McSherry explained. "Then their respiratory starts to decline."

She knows her 18-year-old son Jett is at that point. Walking may be out, but boys in the trial are showing improved pulmonary function. She is certain getting Jett the drug now would save him."There is either this for Jett or nothing else is going to come down the pipeline to save his life, this is it," McSherry said.

The FDA wants more study data, more information, and more proof. Austin and Jett would need to take eteplirsen for six months at least to get it into their system to begin making the dystrophin protein Duchenne patients lack.

"I'm not scared of death," Austin said.

At 15, Austin says he is not afraid to die, which could happen while waiting on the FDA to make a move.

"Give my brother the drug now," Max said."

We know without this drug boys will die, period," McSherry explained.

It's a desperate wait for them all.

RESEARCH SUMMARY

BACKGROUND: Duchenne muscular dystrophy (DMD) is a vicious form of muscular dystrophy that occurs mostly in boys. It is caused by an alteration in a gene, called the DMD gene that can be inherited, but it also can occur in people who do not have a known family history of the condition. The condition causes progressive loss of muscles function and weakness that begins in the lower limbs. Boys with DMD do not make the dystrophin protein in their muscles. It affects approximately one in 3,500 boys worldwide. (Source: www.genome.gov)

SYMPTOMS: When a child has DMD, symptoms normally appear before six years old and may appear as early as infancy.The first noticeable symptom is in motor milestones. For example, sitting and standing independently will be more of a challenge. The average age of walking in boys with DMD is 18 months. DMD attacks the leg and pelvic muscles, resulting in a waddle and difficulty climbing stairs. Calf muscles usually enlarge and the muscle tissue eventually is replaced with connective tissue and fat. When the leg muscles contract, the muscles become unusable because the muscle fibers are shortened and fibrosis occurs in connective tissue. Symptoms are usually prevalent in boys ages one to six. There is a steady decline in muscle strength from age?s six to eleven. By age ten, patients may need braces to walk and in a wheelchair by 12. Few individuals with DMD live beyond 30. Cardiomyopathy and breathing complications are common causes of death for DMD patients. (Source: www.genome.gov)

CHRISTINE MCSHERRY: About two years ago it became very apparent that a drug that was in trial, a trial of twelve boys who had Duchenne muscular dystrophy. Those boys all seemed to stabilize or get better. At their 48 week mark during the trial, the muscle biopsy that was taken from them was revealed and actually showing the protein that the boys were lacking. So, the reason for Duchenne muscular dystrophy or the underlying causes of Duchenne muscular dystrophy is a lack of dystrophin in the body. They have none. And the whole idea of exon skipping this technology goes in and it takes out a certain exon and allows a read through of the chromosome and then allows the body to make a truncated dystrophin, that?s what the aim is for the drug, the mechanism of action is for that drug of this technology. Theoretically, you would hope that it would turn the child who is taking the drug into a milder form of muscular dystrophy called Becker. Becker patients have a small amount of dystrophin, or a large amount of dystrophin, they just have some dystrophin in their muscles versus none like a child with Duchenne..

FOR MORE INFORMATION, PLEASE CONTACT:

Christine McSherryCEO of Jett Foundation

Co-Founder of International Duchenne Alliance

CHRISTINE@JETTFOUNDATION.ORG

Christine McSherry, CEO of Jett Foundation/Co-Founder of International Duchenne Alliance, talks about the fight for kids with Duchenne muscular dystrophy.

We're talking about something that could save the lives of children. What is the basic issue here? What is it that you're fighting for?

Christine McSherry: About two years ago it became very apparent that a drug that was in trial, a trial of twelve boys who had Duchenne muscular dystrophy, those boys all seemed to stabilize or get better. At their 48 week mark during the trial the muscle biopsy that was taken from them was revealed and actually showing the protein that the boys were lacking. So, the reason for Duchenne muscular dystrophy or the underlying causes of Duchenne muscular dystrophy is a lack of dystrophin in the body. They have none. And the whole idea of exon skipping this technology goes in and it takes out a certain exon and allows a read through of the chromosome and then allows the body to make a truncated dystrophin, that?s what the aim is for the drug, the mechanism of action is for that drug of this technology. Theoretically you would hope that it would turn the child who is taking the drug into a milder form of muscular dystrophy called Becker. And Becker patients have a small amount of dystrophin, or a large amount of dystrophin, they just have some dystrophin in their muscles versus none like a child with Duchenne.

So this particular drug at least shows that it's adding some to these Duchenne patients?

Christine McSherry: Yes, and we know from looking at the natural history of Becker and looking at Becker patients that even a little bit of that dystrophin can make an enormous difference in their lives. It allows the muscles to have more integrity, it doesn?t leak as much. So, just even a little bit is good, but in this trial it looks like these boys are making quite a significant amount. Now, we can see it in their clinical benefit as well so, they're functioning better, their walking better, some boys are running, some boys are now playing sports, they don't fatigue as easily, they're climbing stairs, which you wouldn't expect any of those boys to be doing at this state in their disease. Once a boy is diagnosed with Duchenne usually after the age of seven they began to decline. And you can see it in their ambulation; you can see it in how far they can walk without being fatigued or need mom or dad to give them a piggyback. You can see it when they get up off the floor that they'll put one hand on their knee and then eventually they won't be able to get up off the floor. They progress they won't be able to get themselves out of a chair or out of a seated position. In that ambulation, that walking ability continues to decline until it gets to a point where it's safer and they are more comfortable to be in a chair, usually a power chair. So never before in Duchenne history have we seen boys who were on that decline, on that precipice of not walking anymore and it happens very fast, I've been through it myself, we've never seen them just flatline and stabilize for over two years. And that's what these boys have done.

Can you believe your even talking about this, that there is not even action for them to release this drug? I mean it's got to be unbelievable if it works the way you're saying. Why not release the drug?

Christine McSherry: The FDA unfortunately in this case is very confused. I think they've interpreted some information and some data that just doesn't apply in this case. I think that the FDA is sometimes looking for ways to not approve the drug. Instead of putting their arms around this and courting it and saying we're going to do everything that we can to approve the drug. It is very frustrating, I mean I've spent the last 18 months, nearly 2 years of my life, completely 100% dedicated to getting this drug approved. And I realize in that process that if we can't get this drug approved, which is 100% safe, if we can't get that through the gate, what's going to happen with all the other drugs that are in the pipeline for Duchenne.

Could it be that one drug company is in the forefront of this drug?

Christine McSherry: So the drug that the boys are on that we're advocating for that has the data behind it all right, so it's a biochemical data, it has the clinical data that's called eteplirsen and it's made by a company called Sarepta Therapeutics here in Cambridge Massachusetts. There was another drug that was similar, it uses the same technology. I'm told it was an older technology though and it's called a drisapersen and that drug is made by another small biotech company Perosensa. GSK licensed that Drug and they did a 300 patient trial all over the world. I think they had something like 50 sites. So Sarepta Therapeutics has been very transparent in showing us all the biopsies from the boys who are in the trial and in showing us the progression of dystrophin in each one, so they had three biopsies. They had actually had none at the beginning so they showed the pretreatment and then they showed one at 24 weeks and then they showed one at 48 weeks.

So the suspicion is it didn't work?

Christine McSherry: The suspicion is it didn?t work. So this has to happen and this has to happen now for any chance, correct?Christine McSherry: Well think of it this way, so the FDA has already caused a delay and in back in August of 2013 when they said that they would accept what they call a new drug application after the competitive drug did not meet statistical significance on the six minute walk test following that announcement, about a month later the FDA told the company Sarepta that they now think it's premature for the company to file an NDA. So that really set the company and the entire community and this entire program back. So, even if the FDA came tomorrow, which is highly doubtful and said, yes you know we're ready to go we'll take a look at the application and we're going to look at it under the accelerated approval platform, it still takes six months for that drug to work. We're not going to see dystrophin production for six months. And the less months it appears, and again this is speculation, but it appears the less muscle that you have to start with the less robust the dystrophin production will be in your body.

And what about getting the drug out of the country and going overseas to get the drug?

Christine McSherry: Yeah, so at this point that's not an option. This company is the only company that makes this drug. It's an extraordinarily expensive drug to make and there are patents on it. So it's not like you can get a different form of it somewhere else, at this point you cannot. The only other form that you could get might be from the other company like I said before the drisapersen, but drisapersen came with side effects.

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