Requirements for participating in this clinical trial include:
Boys with a diagnosis of DMD (any confirmed mutation) between the ages 4 and 7 years Ability to walk independently No corticosteroid use within the past 6 months and no plans to start corticosteroids in the next 6 months
Our boy will be starting steroids soon
My wife enquired Joanne Donovan, MD, PhD (Chief Medical Officer at Catabasis) about Neil's participation in trial
We got a response by email
"Regarding your son and potential participation in the MoveDMD trial, at this time, our regulatory approval and conditions limit us to the U.S. only. This is confounded by the fact that patients residing outside the U.S. may not be permitted to travel back and forth with investigational product. While some circumstances exist, we are currently working through how, if at all, we will be able to support and enrol potential patients who reside outside the U.S. I know this is not the news you want to hear but would like to keep in touch with you should circumstances change."
Joanne was kind enough to call us and discuss it,her concern was if we will be able to take any medication to NZ after trial
When we asked our Neurologist has advised to suggest "That your doctor is supportive and that I could negotiate with NZ regulatory bodies to try to ensure the medications could enter New Zealand and feel confident I could make this happen."
We are really confused about this situation Neil is 4 years and 3 months now
We want him to get any possible treatment if it can help to save him
On the other end we are not sure if we should start his steroids or not as we are at the verge of starting them
It is really different here in NZ as compared to US in terms of awareness about Duchenne, trials etc There is no dedicated Duchenne Centre here
Doctors are very helpful however most of times we are scared about our boy Whenever we see our Neurologist, we get more confused
Can you please advise your thoughts about this as I believe that you may have an answer for this
Do you know if there have been any studies on DMD boys and enzyme deficiencies? I met with a 5th generation doctor from India that says this is very common, and a cause of many problems with muscular dystrophy patients.
hi pat, just want to let u know that i am finding ppmd an absolutely brilliant resource and support. since my lovely wee nephew ben was diagnosed recently with duchenne, i feel as if i have become an expert on neuromuscular conditions. But we have to, as we have to take control for our boys. I think that you are an inspiration for all that you have achieved so far with pushing duchenne research abd treatment to where we are today. it is looking so much more promising. I recently sent u a friend request and would so appreciate to have u as a friend. God bless you pat and all your team. stephen beggs.
Thank you so much for responding back. I would love to speak with you. What time tomorrow (Monday) would be a good time to talk to you? My phone # is 847-856-1201 and email address is firstname.lastname@example.org. I do have your cell phone # and will be happy to call you anytime you are available. Take care and thanks again.
I just wanted to let you know how happy I am to hear about the Super Bowl & the awareness that it will bring. I also wanted to let you know that my Minister Rev. Richard Young spoke of you & the article of you & PPMD in the New York Times. He said so many nice things about you & how your story touched his heart. His sermon was called "When God comes down". After the service I gave him a hug & thanked him for speaking about DMD & let him know that he has brought awareness to our congragation. Just wanted you to know that.
Thank you Pat ,for replying.As it is all new to me i am slowly trying to assimilate information and this site is a great help.I read in a few places many mums talking about a carrier dvd that is available.Where can i access this?My family as a whole need advice and education as to how best to support my sister and her family.Enable Ireland is my next port of call this month.They will play a major role in the care of my nephew.All the talk of figures etc i find confusing.....different depletions,etc.I hope i will learn as i go along and the support i witness here is brilliant.My eyes have been opened so much here and i don't feel as lost as i was.At the end of the day it is parents and their children here that will guide us best i feel.Thank you for your time,Gerardine.
Hi Pat - Just read the article in The New Yorker. Excellent article. And whoever wrote it, sure did alot of background work. Really enjoyed it.
Happy birthday! I hope this year is the best year yet for you! I hope Tom is doing well too and of course, your girls. Thank you for your leadership, your tenacity and for all you do - Best -Char Burke
Its good I've discovered this site. My brother, Vijay who had DMD, past away in 1984. Since then my attenttion drifted away from muscular dystrophy. Whilst Vijay was alive, I actually got involved in muscular dystrophy research and worked for example with George Karpati in Montreal. One of the things we attempted was myoblast transplantation, but we did have difficulties with this project. I moved away to work on a different research project, muscle/nerve development in Calgary. Any way now that I have found PPMD, it can keep me up to date with the latest developments. Also its so good to allow parents to have their say.
Yes, I agree. I am thinking to start at 3.5-4 if he continues to progress as he does now. At this point we do not see too many symptoms, a little slower running but not much else...cognitive/speech fine. Decreasing dose in time would be great. He has a deletion of 50...hopefully exon skipping does something, the 10-15% dystrophin from Prosensa's trial does not seem much though, hard to say if/how it will work at this point.
Thanks Pat. I hope they can find some funding to test the combination in DMD patients. I am always looking for alternatives to steroids, did not find any so far. Robert is 2.5 now...I cannot believe that 2 years passed already and we have to put him on steroids soon. :(
I do know that. I was just wondering if they want to conduct a trial in non-ambulatory patients (as mentioned in the TACT review) or ambulatory or both. For some reason, I had hopes that this could also be used early on, before reaching the non-ambulatory phase, with good results. Then I saw the TACT review and was surprised to see the proposal for non-ambulatory. Why is that? Why not study the combination in ambulatory as well? Safety issues? I also know that they had a pilot clinical trial. Are those results available? Do they look promising?
In summary, based on the preclinical data with the combination of these drugs in mdx mice, TACT recommended further dose ranging and PK studies in mice and in pilot human studies to define if an effective level of drug is likely without unacceptable side effects. As proposed by the applicants, TACT believed that a trial of these agents in the non-ambulant DMD population could be feasible provided certain aspects of the trial design, as outlined in the report to the applicant, were addressed. From a regulatory perspective involvement of EMA and FDA at an early stage including orphan drug designation was recommended, as was the approach of treating these compounds as "two products simultaneously".
Thank you Pat.
Yes it is very strange that no testing of any kind was done in regards to the toe walking. They just attributed it to sensory issues - toe walking because he was getting extra sensory input on his toes - that's it. (he was diagnosed with SID when he was 4) We have had PT and OT in the past, along with the AFOs, but they didn't question why. We have not seen his orthopedic surgeon since his diagnosis of Beckers. We see her in June, and I am very interested in seeing what her response will be.
My problem right now is we get PT locally through one hospital, the orthopedic doctor is at another local hospital, and the neuromuscular specialist and cardiologist (we did have a baseline echo and EKG already) are in Boston Childrens which is about 90 minutes from my house. My concern is the lack of coordination in his medical threatment. I took my son this week to see the PT in Boston to review his PT here at home (as they have no other patients with MD). She recommended aquatic therapy.I am now working with the Autism Resource Center in my area for the sensory issues. My son NEEDS to jump on the trampoline (if he can't he'll just jump up and down on the floor, crashes into things, etc.). this is not good for his muscles, so we are working on trying to find other outlets for him to get the sensory imput he needs. So I have signed him up for a sensory gym they run once a week run by a OT person, so hopefully that will help.
I would love to connect with another family with similar issues, and get advice about what they have tried. Unfortunately, most of things my son has done in the past before the MD diagnosis is no longer appropriate - like the trampoline, weighted vest, etc. The stretching in PT and at home is great, but it doesn't help with the sensory issues!
I Iam trying to coordinate things, but it would be so wonderful to find someone who is dealing with similar issues.
Thanks again for you help and support!
Yes, I did notice that. Cossu's group is working on this. I exchanged emails with Emilio Clementi and he said that they are conducting a pilot trial now with results expected in a month or so. I did not know if you have more info on that. The combination looked more effective than prednisone in mice.