May 17, 2013 / Comments Off
Since the beginning of August 2012, my mornings have started the same, I literally live on my mac and my iphone…waiting. I wait for the good news that Sarepta will seek accelerated approval, for the hope that someday soon I will be able to give Jett eteplirsen, and many boys will benefit. Today Jett is home from school, too tired to make a full week. This means my workday is limited, but that is ok. I use this time to watch the videos, read the testimonials and witness the excitement around boys with Duchenne on eteplirsen who are either getting better or stabilizing. I often wonder how Jett would be if he were included in the trial when he was still ambulatory. I think about the changes our family has undergone because of Jett’s progression and how these families, the ones participating in the trial – how they are and will be delaying these changes in their lives. How encompassing Duchenne is on our financial and professional lives – how both of these issues, changes – can further affect quality of life. Our changes came like a train, a fast train that you could not stop.
When Jett was near the end of his ambulatory time, he was falling a lot. He wanted to walk, even when we insisted he use his scooter – he wanted to walk, and then he would fall. One night, he was standing in the shower, I was not more than an arms length away and he fell, hard. He fell so hard that he began to cry from the pain and out of frustration. That night, he told me he didn’t want to walk again, it just wasn’t worth it, there were too many painful falls. I don’t know who cried harder that night, Jett or myself.
The big power chair (3/4 covered by insurance) showed up within a couple weeks of that fall, then the changes came. We started by tearing apart the former garage and placing a ramp into the new entrance to accept the power chair. Then the back of the house, removing the stairs and changing the deck, tearing up the concrete around the pool area and ramping it for access (25K), purchasing a lift for the swimming pool (around 4K). Changing the grade of the side yard to put a ramp into the basement so he could hang out with the kids – in the “kids hangout” area (10K). Taking more space in the garage to add on a handicap bathroom (20K). Bringing in lifts, shower chair and a bed that was similar to a hospital bed (8K). There is no assistance to help pay for any of these modifications, families, like mine, are left to figure this out on their own.
Along with that power chair, we also needed the handicap van to get him and his new heavy chair around. No longer could we just throw the scooter into my SUV for trips – the power chair was over 300 lbs. Funny thing about handicap vehicles, in Massachusetts there is no assistance to purchase them and they cost about 60K new. They are converted vans – meaning that they were not originally built to handle all of the conversion equipment (the ramp, the electronics to open the ramp, the weight of the equipment and chair, etc.), they end up requiring a tremendous amount of abnormal costly maintenance not covered under warranty. (Now we have Clifford, a MV1 made by VPG - made as a handicap vehicle, much more reliable and Jett can ride up front).
And it doesn’t end there…want to take Jett on vacation? The steps and costs involved are enormous. A vacation might involve boarding an airplane if we choose not to drive. This means we need to transfer Jett from his power chair to an aisle chair to a seat on the aircraft. The power chair then needs to be loaded into the cargo portion of the plane. On several some of the early trips taken with the power chair, the crew did not store it properly and we would have to rent a manual chair while trying to locate someone to fix his power chair at the location, not easy. Transportation is an issue if we don’t bring our own, the cost of renting a handicap accessible van is about $200 per day, and because we have 5 children, we would still have to rent an additional car. Typical handicap beach chairs are not only uncomfortable, many resorts/beaches will not allow you to use them for the entire time, they ask you to transfer the handicap person to a normal stationary chair, then use it again to transport the person off the beach. We purchased a hippocampe (5K) to so Jett would be comfortable, be able to be pushed along the shore and so he could get in the water if he wanted.
Although the state of Massachusetts does provide some assistance with caring for Jett at home, it is not nearly enough. Someone, whether a parent or one of his siblings, need to be with him 24/7. He needs his head scratched, a glass of water, someone to get his computer, prepare his meals and help feed him, help to turn him every couple of hours at night, brush his teeth…Jett is completely dependent on others for everything. Priceless.
I am not trying to add up all the costs we have endured over the last several years for other to see – I wouldn’t change a single thing. Our family made sacrifices – as all families do with a family member who is ill, and we all do this without looking back - I am merely trying to point out the additional benefits of eteplirsen in the lives of these families that seem to be overlooked. They may have to face the same challenges that I have some day – but at least it’s not today, and given the positive trend that is emerging, it appears that these changes could be delayed for a significant amount of time.
For all of the reasons that we are witnessing through the data presented by Sarepta, for the reasons we haven’t identified yet but will through confirmatory trials and for the reasons listed above - quality of life, eteplirsen needs accelerated approval and it needs it NOW. Lives can be dramatically changed, not only physically for these boys as we are seeing through gains and stability, but it runs deeper than that; quality of life should not be overlooked, the financial burden presented to families can be staggering and the personal/professional toll this disease takes on parents and siblings can not be measured.
These are the additional messages that we need to get to the FDA. From my past meetings with Drs. Woodcock, Temple and Katz, who verbalized their compassion for the many changes families endure when caring for a child with Duchenne, I believe this additional color will further add to their confidence when considering eteplirsen for accelerated approval. I believe that the FDA will take all of these facts into consideration, that eteplirsen is also reasonably likely to predict a benefit, a better quality of life for patients and families affected by Duchenne.
I also believe that one of these mornings; soon, I will open my computer to good news – hope for Jett and many other boys. While we don’t know if Jett would ever improve on eteplirsen, I can only predict that his quality of life and ours, how he is living right now – just might be stabilized longer, and to me – that is the additional benefit of eteplirsen.
May 12, 2013 / Comments Off
For all those who know me and follow me, you probably could guess that this was coming – all I want for Mother’s Day is Accelerated Approval (AA) for eteplirsen. For Jett, and all those who will benefit. For all the moms who are mourning the loss of their son on this Mother’s Day, that their tears be used to motivate us to speak to the urgency needed in Duchenne. That those lost to Duchenne, they have not passed in vain and we, as parents, do everything, everything possible to prevent another loss in this community.
Why eteplirsen? It has a pristine safety profile and Sarepta has indicated that they would seek accelerated approval – this means that if granted, all those who could benefit from eteplirsen, will be eligible to receive it – all. Not some or individuals that are praying they meet the criteria/protocol – all.
Sarepta has made their data public in a very timely manner – they understand the urgency. Furthermore, they have a plan to get drug to the next three highest populations, 53, 50 and 45. This means that if accelerated approval is granted, approximately 33% of the Duchenne population will be receiving treatment – 33% or one third of the population – within the next couple of years. A couple of years – that is within the lifetime of many of those affected. (go ahead, ask the same question I did – how can we make it less than a couple of years – let’s keep asking).
Lastly, Sarepta has told the community that they have a plan, to get drug to the most rare exons and multiple skips in a timely manner. Is it really that crazy to think that through all these programs, that the learning curve is not reduced to also skip duplications? Did we ever imagine using Cialas to treat Duchenne, no – so let’s not discount anything yet. Instead, let’s hope that technology will continue to improve and through a deeper level of understanding, industry can reproduce the success currently seen in eteplirsen in other mutations.
What happens if eteplirsen does not receive AA, the consequences to the Duchenne community would be devastating – the immediate 33% that could benefit, and the other 50ish% would be delayed for years and years. How many of our boys will be lost, how much function will be lost? Are we willing to have it approved years from now based on the same data we are currently witnessing, today?
Today is Mother’s Day…for me, it gives another opportunity to be the best mother I can be, after all – I wouldn’t be the mother I am today, without my son…love you Jett xo
Here is a list of amenable mutations in Duchenne
May 8, 2013 / Comments Off
It’s that time of year again! Jett Foundation will be sending out a team of teenage riders – those who have family members affected by Duchenne.
Duchenne is devasting. Boys with Duchenne lose their muscle function and their independence. Their parents and siblings lose any sense of a nomral life, Instead, siblings live with guilt and frustration. They feel guilty that they have functioning muscles, that they can play sports, get summer jobs, date, drive and go to college. They often feel frustrated that they can’t do more to help their brothers afflicted with Duchenne.
The JettRide gives siblings an opportunity to use their physical and emotional strength to help brothers with Duchenne. By riding 1,500 miles across a dozen state, the JettRiders are able to raise awareness and funds for Duchenne research. They’re able to make a difference in the fight against Duchenne.
The route for the JettRide is set by the families who are affected by Duchenne. The JettRiders visite boys/young men and their families – it is the most rewarding part of their journey. Last year the JettRiders visited with over 30 families, inspired over 35 boys/young men with Duchenne and spread the word to thousands along the road.
Please help support our riders this year, our riders are in need of a corporate and finish line sponsor. Please reach out to christine@jettfoundation.org.
May 6, 2013 / Comments Off
I think we just identified a side effect of eteplirsen, really great dance moves! Seriously, watching this video on facebook this morning after writing the post about Jett’s prom last week – inspired me and the lit the fire again. The only side effect in this potentially lifesaving drug is running, walking longer, raising arms over head, swimming in the pool, playing basketball and dancing - acting like a normal school age kid.
Sarepta created a drug to make dystrophin in the body. Biopsies from all the participants show dystrophin. Check. Sarepta’s compound, eteplirsen has a negative charge, this reduced the risk of side effects. No side effects. Check. If eteplirsen was creating biologically active dystrophin, its reasonably likely that it would be seen by some functional benefit, dancing? Check. Why do you think I consider this a functional benefit – I think it will be really useful at his junior prom.
Click here to view video
Should Sarepta consider bringing this dance video to the FDA – compared with my pics of Jett at his junior prom last week? Knowing the conversations that I have had with Drs. Woodcock, Katz, Temple and Commission Hamburg, I am confident that they would be impressed and they will want to keep this little guy dancing for as long as he can…
May 2, 2013 / Comments Off
Junior Prom. The Prom seems to be the right of passage for most high school juniors. For our family, because Jett (nearly 18) is in a power-chair due to the progression of Duchenne muscular dystrophy, a genetic neuromuscular disorder, it would be yet another attempt to be like the “normal” kids. (and for the record, I don’t think there is a ‘normal’ teenager out there, but can’t tell Jett that – he knows everything) Having two daughters who have been through this – Jett knew what normal “Prom” was supposed to be, with all its traditions. This was a night that I began to mourn the loss of when Jett was first diagnosed, 12 years ago – I never thought he would dance.
Sometimes prom goers will get in a group and rent a limo – or something fancy to take them to the event, this often solves the teen driving issue and makes the kids feel special. For Jett, we decided to rent a handicapped accessible bus, 64 classmates signed up to go with him. Normal?
Jett started hinting to his two brothers, (16 & 15), that he needed a date – but was unsure how to navigate this. Jackson, (16) knew the perfect date for Jett, his girlfriend had a twin sister – and she was beautiful, fun, and compassionate. Olivia was all that and more. Olivia was a girl that was rich in character and could feel comfortable in almost any circumstance. She was also the type of girl who would do everything possible to be sure Jett had a good time.
With transportation and his date issue solved, we needed to tackle the next important item on Jett’s list – the after prom party. No problem Jett, we will host at our house. We are fortunate to have a home that has plenty of floor space for teens to sleep on, a basement that is accessible, heated swimming pool, fire pit and an enormous custom built hot tub (Jett’s dad is in the outdoor backyard biz)…who wouldn’t want to come here after prom? Jett was a little upset with the “absolutely no alcohol” policy – but after a few days, he got over it. He was worried that the kids wouldn’t want to come; of course this wasn’t true (but, remember, Jett knows everything, normal).
The big day arrives. Jett is dressed, ready to go. Olivia arrives and she looks like a princess (and to me, a fairy Godmother). Jett is smiling ear to ear as the kids and families start filling up the back yard. They are all taking pictures – everyone looks beautiful. Dozens of kids line up to have their picture taken with Jett, my favorite is the one with just the guys – he is right there in the middle, best buddies on either side of him. Just before the buses arrive, I take a quick look around and estimate about 250 people in the yard. Well, I don’t think this is “normal” either…
The prom goers’ load up both buses, Jett uses the lift provided the first bus. He looks nervous, normal. The chanting and singing can be heard as they pull away toward their destination.
When they arrive back to the house, the kids come running off the buses, his close friends come immediately to report – Jett was Prom King and had the best time ever. Olivia was great; his friends recalled how fun she was. (Olivia came back wearing the Prom King sash, and Jett had on the crown) Jett danced with his power chair, with everyone – headlights and hazards ablaze on his chair, he did 360’s and rocked out to the music the entire time.
Dresses and Tux’s were quickly peeled off and replaced with bathing suits and/or sweats. The kids had a blast, they used the pool, hot tub, fire pit – every amenity we had. There were cannon ball competitions, bursts of singing, small and large group games and activities – all fueled by the endless supply of food. By morning every inch of the first floor and the basement were littered with something or someone related to prom.
Silence, finally at 7am. Downstairs I find him. He is still sitting up in his power chair, but sound asleep. I put him to bed; he sleeps until 5pm that day. Normal.
With each child that I had, I would start to envision all the things that I expected they would have – first day of kindergarten, riding a bike, getting their drivers license, proms, graduations – even marriage. As he got older and progressed in his disease, I witnessed all that he could not do…all the things that Duchenne robbed him of; the losses became monumental. He simply went from growing into an independent school age boy to an adolescent that was completely dependent on others for almost everything. Dreams of prom, just disappeared, until now.
Now there is a shift. There is a sense of renewed hope between us. Eteplirsen is on the horizon. This has enabled me to have necessary conversations, specifically with regulators, that will have an impact on Jett’s life, and others with Duchenne.
Sarepta Therapeutics is providing the Duchenne community with new, innovative models. Their ideas on programs are creative, time sensitive. They seem to beg the question, why not? Their dialogue and actions are leading to faster results. From my experience, this not how ‘normal’ biotech’s behave.
Eteplirsen is stabilizing boys with Duchenne – it is producing dystrophin, functional dsytrophin. Boys in their trial are not declining.
I will continue to be the steward of Jett’s story because I want industry, regulators and bystanders to realize that Jett, like all those affected by rare disease, are not just market share. I want to hold accountable those responsible for time slips. I have to; it’s just so close…to keeping some normal things in his life.
Jett danced at prom, normal, he used his chair to make something not normal – normal. From what I can tell Sarepta is doing the same, eteplirsen is making Duchenne muscles more like normal muscles by adding in some dystrophin, and it might be enough to keep some boys dancing.
April 30, 2013 / Comments Off
While there seems to be a debate related to the dystrophin being produced by eteplirsen and whether or not it has proven to be correlated with a clinical benefit, I believe the FDA guidance on accelerated approval requires that the dystrophin production only be “reasonably likely to predict” clinical benefit. All of the arguments related to the size of the eteplirsen study, the statistical analysis or the debate about the natural history of the disease doesn’t seem to recognize the fact that eteplirsen is producing dystrophin in all patients after 48 weeks of treatment and has led to a stabilization of all ambulatory patients in the study over 74 weeks in the early treatment arm and now over 38 weeks in the placebo patients who were on a steep decline before eteplirsen produced dystrophin in their muscles.
To those who do not have to live with the personal devastation, as my family has with Jett, and what it brings families, I am here to tell you that we cannot wait any longer while those who are not living with Duchenne (Devastation, Destroys, Degenerate, Death) debate the need for a more precise and definitive correlation of dystrophin and stabilization of the disease. The fact that eteplirsen has proven to be safe in all of these patients, including those who have now received high doses of the drug over a 74 week period puts an exclamation point on the need for this drug today based on the risk-benefit ratio of making the drug available for this rapidly progressive and irreversible disorder.
“The Correlation Between Dystrophin Levels And Clinical Benefit Is Poor” – Cowen Research Report dated April 22, 2013
I find it interesting that this sentiment that the correlation between dystrophin and clinical benefit is “poor” has only started to gain traction AFTER we have drug that is producing dystrophin at statistically significant levels with a drug that is designed to produce dystrophin in Duchenne patients. No one was questioning the need to restore dystrophin when it was made clear that the milder disease that affects Becker muscular dystrophy patients is based on the same type of dystrophin that eteplirsen is producing. There have been a number of animal studies that have demonstrated clear functional improvement, even with the same chemistry that eteplirsen is produced, in mouse and dog models of the disease. Subpart H, accelerated approval doesn’t require a “proven and confirmed correlation,” it requires the data to suggest that the drug is “reasonably likely to predict” a clinical benefit – what does reasonably likely mean? Does it mean it has to mirror or correlate 100%? No, it means what it says - “the drug product has an effect on a surrogate endpoint that is reasonably likely, based on epidemiologic, therapeutic, pathophysiologic, or other evidence, to predict clinical benefit or on the basis of an effect on a clinical endpoint other than survival or irreversible morbidity.”
All of the patients, all 12 patients showed positive dystrophin fibers in their biopsies. All ambulatory participants demonstrated stabilization of their walking in the 6MWT after dystrophin was produced by the drug. The two twins who rapidly lost ambulation before dystrophin was produced have surprisingly shown stability on pulmonary function and muscle strength. This means all patients seem to demonstrate positive effects associated with the drug after dystrophin is produced. Not some patients, all patients. Is it reasonable to think that there was variability in quantifying all 12 of the muscle biopsies? Is it reasonable to think that there is a sampling error in all 12 of the muscle biopsies? Even though there might be variation in the amount of dystrophin in the individual patient, the data shows that all dystrophin increased with time. Despite the limitations of dystrophin variability, it is quite encouraging that all the boys displayed dystrophin production. This bolsters confidence that the drug is working. Slides presented at the MDA conference this week show stabilization in the 6MWT along with an increase in dystrophin positive fibers, around the same time.
If the numbers confuses anyone, there is visual evidence of the dystrophin production as well. Take a look at the slide below showing the progression of dystrophin production with eteplirsen. If you look at the 48 week biopsy slide and the dystrophin positive fibers, do you believe this looks closer to the normal healthy patient biopsy (on the far right) or does it look closer to an untreated Duchenne patient’s muscle biopsy (on the far left).. I’ll bet if you asked any 5-year-old Duchenne patient which muscle biopsy looked closer to the 48-week eteplirsen biopsy, they would pick the normal non-Duchenne slide.
Do you have to require trials with hundreds of children to satisfy the system or can you show a large effect and significant benefit with a smaller cohort, which suggests that this drug could change those diagnosed with Duchenne and their families’ lives forever?
During discussions with the FDA, specifically Commissioner Hamburg, this is a direct counter to what we were told. We were told repeatedly to tell industry that the FDA wanted smaller, innovative trial designs that targeted the underlying cause of the disease, they are aware of how these patients progress and don’t want large scale trials in this indication. It was my sense that there was a willingness to be flexible, that this FDA wanted the change it was advocating for, and this might be the opportunity to demonstrate their proactive demeanor.
At the end of the day, the data speaks for itself. The natural history data is undeniable. Those diagnosed follow a projected decline, there are few outliers. The average patient follows a predictable course – this we know. The dystrophin data is there, the clinical benefit is evident. There is anecdotal data circulating in the community that further strengthens the case – patients in the trial are beginning do to things that they never could prior. That rarely, if ever, happens in Duchenne – in this age group. These are important and measurable patient reported outcomes where parents are seeing gains and stabilization. These gains have an enormous impact across the board; psychologically, sociologically, economically – they are simply immeasurable. This is something the Duchenne “experts” have not taken into consideration, but is an important consideration and must be highlighted. These participants and their families are being spared – perhaps temporarily – the costly move to a one story house, the purchase of a handicap van, the fitting for a power-chair, the alteration of installing a ramp to their home and many more. Instead, they are celebrating things like, making a basket in basketball for the first time, participating in a 5k, trying on ice skates, and jumping over a bike rack – to impress a girl, and many more.
My family is living with this horrible progressive disorder. We hope the community will have a clear understanding of the key issues and successfully navigate any diversions. We finally have the opportunity to impact this disease. How much further devastation and loss could result if this drug is not approved in the upcoming months? Far too many “experts” have lost sight of the bigger picture because they are lucky enough not to have to deal with it every day of their lives – but to be clear Duchenne equals death and this drug needs accelerated approval now.
Perhaps readers might think that I am biased and over emotional because I want this drug to work for my son – but actually, I am capable of evaluating trials just like anyone else, I have been doing this for 12 years, I have evaluated many potential treatments. I wouldn’t be as passionate about this drug if I wasn’t convinced it works, and I have seen it with my own skeptical eyes, and from what I have seen, it works.
April 24, 2013 / Comments Off
Kyle installing under glow
Friday evening, just after midnight; my cell phone rings. It is my fourth child, out of the five; Jackson. Despite his deep voice, his 6’2″ stature and “swag” as he calls it, he is a year younger than his brother Jett, who is 17.5. Due to long term corticosteroid side effects, Jett is almost always thought to be the “younger” brother.
In a parents attempt to give Jett a “normal” teen life, despite the power chair and dependency on others for almost everything he needs…we also gave his “newly driver’s licensed” friends – the car aka “Clifford” (nicknamed Clifford because it is big and red). The expensive handicap car. The new one that we got just so Jett could sit up front, next to the driver. These friends have been around since kindergarten. They have been loyal to Jett and have done their best to make him feel part of the group. Jett feels like a king when one or more of them stop by and take him out. He loves being with them and feeling independent, even if he is not the driver. Two weeks ago his best friend is Kyle installed a new stereo system…now the car/van rocks, literally. Jett loves it!
So, last Friday night, around 7pm with Kyle driving, Jackson in the back with two other friends, they piled in the car to get frozen yogurt – saying they would be right back.
Midnight, I told my husband that we should call them. He talked me out of it, reminding me of what we did at 17, riding around with your friends is the “normal” teen thing to do. I agreed. As parents, we all want our kids to have normal teen experiences. We expect them to slip up, we use those slip ups as teaching moments. Sometimes we do the extraordinary acts to ensure that our teens are getting everything out of life that we think they should.
How do you navigate the “normal” teen years when your son has Duchenne?
On the phone, Jackson explained that somehow, they ended up on the beach. “Suddenly” the pavement turned into sand…and they were stuck. Luckily, they all had AAA cards, so they just called AAA to get them out. When the driver arrived, he noted that this new car did not have a place on the undercarriage to put the wrench – so he attached it to the tire. They all figured that if the tire popped, they would just use the spare. Well, the tire popped – and as luck would have it, this new car did not have a spare.
Here they were, the 4 teenagers – Jett in a power chair, stuck in the parking lot of a beach 20 miles from our home. No spare tire, no way to get Jett home.
My husband leaves to help them, but we don’t have a second van. We remember that there is a handicap taxi service in a local town. I call them, they were not that happy to go at the late hour…but $150.00 later, plus tip, they dispatch their driver. My husband decides that they will transfer Jett out of his power chair and into his jeep and wait for the handicap taxi company to bring Jett’s chair and him home. We will have to leave the car, aka – “Clifford” at the beach til the next day when we can resolve the tire issue.
The boys finally arrive home around 1:30am. They transfer Jett into a shower chair and roll him up the ramp. The handicap taxi follows not long after.
Jett asks me if I am “mad”. Of course I wasn’t mad, just a little nervous. I want Jett to have normal teen years…
All parents of teens must be creative and resilient, parents who have a teen with Duchenne have to be extraordinarily resourceful, and humble. Because of Duchenne, our kids, our spouses and our families become a different breed.
Makes me wonder, how would a treatment – now, affect him, his life, our life? The treatment, exon skipping, on the horizon, is it in his lifetime? Would it allow him to have these “normal” experiences longer…would he have more normalcy in his life? Would it make driving Clifford a possibility, if it were able to stabilize his upper arm strength. No one can answer these questions, but we need to start thinking about this – quality of life and how treatments can and will affect this patient population.
While thrilled that Jett has these experiences, it is just a subtle reminder of our family’s “normal” life with Duchenne, exon skipping is a loud reminder of what is possible.
/ Comments Off
“INVESTMENT HIGHLIGHTS
Day 2 at MDA: The other side of the coin – patient advocacy in drug development; reiterate Market Outperform rating and $50 price target on Sarepta Therapeutics based on a risk-adjusted, discounted cash flow analysis. During day 2 of the Muscular Dystrophy Association (MDA) conference, Frank Sasinowski, attorney, former FDA member, and board member of NORD discussed changes in the 2012 PDUFA law that, for the first time, requires the input of patients into drug development. We have witnessed hints of this paradigm shift from patient advocates with whom we have interacted. Specifically in DMD, the FDA met with three mothers of boys with DMD, one
the mother of twins, and feedback that Mr. Sasinowski has received from the FDA was that the women made a “powerful impression”. In our view, this shifting FDA paradigm is the wild card in the case for accelerated approval of eteplirsen, as the FDA may be more receptive to a higher degree of uncertainty that they, on behalf of patients, are willing to take on for the accelerated approval of a potential life-saving therapy. At the conference, we also saw the 74-week data for the extension study of eteplirsen, which is consistent with the 62-week data and, in our view, are supportive of a drug effect.
FDA EVOLUTION.
The FDA is seeking input from patients, which is a paradigm shift, in our view. To this end, the Agency will conduct panels on 16 diseases in 2013-2015 (Figure 1), focusing on important endpoints and outcomes for patients as well as what is acceptable to them as far as risk/benefit. One of the 16 disease areas covers inborn errors of metabolism, such as DMD. We believe the meetings between the FDA and Sarepta and between the FDA and patient advocacy groups are representative of this paradigm shift 74-week eteplirsen data. Data from the 74-week time point of the open label extension study was consistent with top-line data (Figure 2). Dr. Mendell presented these data and stressed the lack of treatment emergent adverse events and that not a single dose was missed or any discontinuation throughout the 74 weeks, which we believe is supportive of a potentially differentiated safety profile.”
April 23, 2013 / Comments Off
Dr. Jerry Mendell from Nationwide Children’s Hospital presented on Eteplirsen this afternoon, here are the slides.
Mendell Eteplirsen 74 Week Data_MDA 2013[2]-1
April 21, 2013 / Comments Off
Unmet medical need, that is how I see Duchenne. Discouraged for years, I feel like bio-techs/pharma have offered me hope for 12 years, delivered NOTHING in 12 years – until now… Sarepta Therapeutics has the three things I have been waiting for – all these years – with their lead compound; Eteplirsen.
1. SAFETY – Not a single safety concern.
2.BIOLOGICAL EFFECT – Biopsies show dystrophin in the muscle.
3.CLINICAL BENEFIT – Clearly demonstrated in the 6MW, also several participants now showing “gains.”
4. BONUS – a plan to address even the rarest of exons, the largest deletions and multiple skips SOON.
Sarepta understands the urgency, their plan offers speed. Sarepta understands that there are boys who don’t have time to wait for a Phase 3 trial, they are considering applying for accelerated approval. Sarepta understands that there are populations who worry that there are not enough patients to trial the rare exons, so they have a plan to try to reach all amenable exons, even the rare. Sarepta understands the need for knowledge and transparency, so they present their data, all their data – in a timely manner.
This is all re-assuring to me. As a mother to Jett, a nearly 18 year old with Duchenne, I want a compound that shows consistency in safety and efficacy, the profile that Eteplirsen has shown to date.
I am encouraged by the honesty and timely communication from the company has provided to the community.
Lastly, I am encouraged by what I have seen with my own eyes – Max, a boy I knew a camp two summers ago, a boy who needed the assistance of a “chair” at least half time…now walking and running around like a typical 10 year old.
Now, encouraged about what I am seeing from Sarepta. Now, after 12 years, encouraged about Jett’s future.
