Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit organization in the United States focused entirely on Duchenne muscular dystrophy.
We take a comprehensive approach in the fight against Duchenne-funding research, raising awareness, promoting advocacy, connecting the community, and broadening treatment options. Only this comprehensive approach will lead to the day that 100% of those diagnosed can turn to a treatment that will lead to the end of Duchenne muscular dystrophy.
If A dad with 5 generations of known family members with either being a carrier or having beckers/duchene muscular dystrophy, what Percent Chance does his daughter have of being a carrier?
My young friend takes 5ml of emflaza on Friday and Saturday mornings. He has a lot of issues affecting his mental health, including a grandma that uses sugar to buy his loyalty to herself. On his emflaza days, his temper is extremely intensified. To the point of using physical violence against everyone around him. I've started to call his behavior... Roid rage.
LOL, until recently I hadn't realized that Mario updated his favorite way to tackle ED and it's a relief! Although what he previously suggested was pretty good, it was a real pain to follow... I just go'ogled the latest by Mario Volpstein, it's so much simpler and potent now!
My daughter is a manifesting patient of dmd. We all need to be part of all the treatment as well as boys because we also have same symptoms as boys do.
My daughter is a manifesting patient of dmd. We all need to be part of all the treatment as well as boys because we also have same symptoms as boys do.
I am floored. I am also in the greater Philadelphia area, have a family history of DMD. My mom had a test done when she was pregnant with me and my male twin. At the time the test they did showed that both of us had a 95% chance of inheriting the effective gene. I shared all of this information when I went to UPenn with a genetic counselor. I was told that there was no possibility I could be affected despite my carrier status. I was diagnosed with fibromyalgia instead. I'm glad this video is here, feel very validated as a confirmed carrier that my muscle weakness is not 'just in my head'.
Emily, please feel free to reach out to our team if we can help talk through any topics or answer any questions you may have: www.parentprojectmd.org/care/for-families/ppmd-for-you-schedule-a-one-to-one-meeting/
Ya no importa, tengo el tipo de duchenne que actúa como Becker, pero no me interesa, seguiré avanzando hasta el final, y si muero moriré sabiendo que pelee hasta el final
So. I am a carrier but my daughter is not supposedly. However, this does not mean she won't have a son affected with d m d. Could you please explain that?
Great info, I really feel that I am sceptical of the advantages for the kid. They sure seem to be there, but cushingoid syndrom and weight gain need to be dealt with in future medications for sure. But may be one step at the time. As far as I know, not all gene therapy require you to stay on steroids. SOme do, some don't but correct me if I am wrong.
This was 2011 the year one of my son's died of dmd he was 25. I had 2 boys. My other son died 2014. He was 31 years old. I wish I could have been able to find some kind of support system. Someone to talk to when they were alive that really understood. Because unless you have this disease or work with someone with this disease ...you really do not know what it's like and can understand.
May be I am too negative, but these results would have been exciting 10 years ago. It is actually a very good sign that such results are nothing special anymore. I think we can say that this however might be vastly enhanced by using better mechanisms alreayd known to penetrate the muscles.
No cure, significant slowing down of aspects of the disease (seems ot be directed at the heart which in the end is the main reason for death in Duchenne). More effective when the progression of the disease is not advanced, so the younger you get this to kids the better but as of yet it is not available but it seems to be (my words, not theirs) close to coming to market. My guess (2025 +/- a year). I would like to add: beware of the enormous costs when not insured...
Well, so far so good. Let's see how these kids will develop in the coming years and especially howmuch additional benefit 2 x 10^14 dose will get the second groups and what the side-effect profiel will be.
Mi hermano murió por DMD, ya que al pasar del tiempo afecto su corazon y dejo de latir. Las personas que esten luchando con esta enfermedad que Dios los bendiga dia y noche
Galgt2. we are 21 yrs further down the road 9since the concept was proven to be viable in mice, 2002) and now two boys have been treated with GALGT2. The younger one (6,8 yrs at the start of the treatement) after 3 years is doing reasnably well. He is not doing as well as boys after 5 yrs with Elevidys but is doing quite a bit better than peers of 10 years of age. The second biy got half the dose, was 8.9 yrs old. So that to me is a double disadvantage. He first seemed to stabilise but then took a nosedive losing his ability to walk during the study (2 yrs). A reason, apart from him getting to little and in all likelihood being to advanced in the disease was that hi parents took him off of corticosteroids (understandable but especially for the study a very bad choice and possibly for the boy too). We know Utrophin does not have the same functionality as dystrophin and some important function remains missing (I am surely no expert, but I thought it is not capable of binding nNOS). Interesting to watch this older info. Also of note is that 5 x 10>13 is half the dose of what is given in other (microDYSTROPHIN) similar therapies 1x 10>14. The boy of 8,9 yrs old (who is discussed here) got 1/2 of that dose to be clear. So it is still difficult to assess the optimal outcome with this therapy. Edit: Sarepta as many now know over the last five years have come through and Elevidys is on market (but they need to come with more convincing evidence I believe in order to keep it on market, FDA is sort of convinced...). The results are good but since it is not definitive, the effect of Elevidys wears off over years (I have read reports of kids that have plateaud and now are getting worse again). So we need others to come through and also getting rid of viral vectors or better, delivery that cannot trigger immuneresponses are needed and on the way. Currently I can come up with two therapies that are heading there: DEC cell is one, which fuse cells (from the patient self and one that makes it express dystrophine) and these are injected into the bone. Using the own cell in the way they do means no immune response is triggered (and therefor also no higher dose of corticosteroids). SOme results are in just this year and results a sadly not THAT good. Which is kinda strange since these cells deliver fulll ength dystropjhin. Still the effect is really helpfull and the plus is that this CAN be redosed and also over time more effective versions could be developped. But this one is really in some trials all ready. Than we have Myosana that will go into clinic in 2025 but ore likely 2026. THeir preliminairy findings are very promissing and this should also be able to get used over and over again. However: we have seen very promissing results before. Myosana does report good expression in all skeletal muscle, I believe diaphragm and heart. But we should not expect it coming too market before 2030 I feel. Pfizer, also ove rhere, had a temporary setback due to a fatality in their trials, but they figured out what it was and are now carrying on. Apart from this we are likely getting Vamorolone in within a year. It works as well as prednisone but lacks quite a few quite distirbing side-effect. So it does not disrupt growth at all, also bone density is not affected, less behavioral changes and less hair growth. Weight gain and cuhninoid features however are still apparant. And finally we have Givinostat, HDAC inhibitor that is very different from anything currently on the market. Again it is no cure at all but all in all delays the progression with a few years. Interesting will be how it all works when (if) we combine these (soon to come) therapies. We can have dystrophin and utrophin to high percentages at the sarcolemma combined before it is one over the other. So what if we can combine Elevidys with that GALGT2 therapy? Since they use the same vector, shoudl they then be injected together? And how about this and Vamorolone and Givinostat? What will it get us. BEcause if this leads to a decade or two of delay and preservation of muscle, than this also buys patients time to almost fully profit from much better medications or cures.
The problem with these steroids are of course their (horrible) side effects. Now Vamorolone does not have them (as bad). It causes less behavioral problems, NO growth reduction, NO bone loss (and when people switch these problems go away!), but weight gain is still there and of course: Vamorolone is not approved yet (expected 2023/2024). BUT....almost all trials demand that your son is on a regular steroid dose. Reasons to me are not always so clear, but I am sure this is done with reason in mind. But there you are: in a trial, may be he is just getting a placebo but for sure has now to deal with the steroidside effects. I hope that Vamorolone is indeed an alternative with the same efficacy and indeed the side effect profile is indeed far more benign.
