Does anyone know about genes that regulate osteopontin - as a possible genetic modifier for those DMD boys that are atypical?

Views: 280

Reply to This

Replies to This Discussion

Wow!!!! Walking! How cool is that? I love to hear stuff like that. Way to go Wyatt!!!!
You know, he really did not learn much more than we already know. The trials are coming, but they are just trials. I think we are at a time in MD when huge milestones will occur in the treatment. They IV trials are showing no signs of toxic side effects which is great. Even at higher doses, the drug is so well tolerated.
I got this email regarding a trial set to start in March 2010, but we found out yesterday that they have not even gotten proper registrations yet. So that may be pushed off. I'll paste it at the end here for you. We would like the trials to be in DC because it's really hard for us to pull Liam out of school for more than three months for a trial that will end and the treatment will end as well. I live for the point when this becomes regular MD care and our boys get it for the rest of their lives. Liam will be 10 in a month and has shown not signs of slowing down. Rides horses twice weekly and runs all over the place. Heck, he walked all over Italy this past summer. So, yes, things are very good around here - thanks for asking. I must admit that I cam be frantic about looking for slips in Liam - when he may be slowing down, but I'm not seeing anything yet. And look at Wyatt - walking. I'm excited. Wyatt is so darned CUTE!!!
Here is the email - take care and let me know when Wyatt is running!!!

First Human Exon Skipping Trial in U.S. Planned for 2010
Trial to begin in March; eligible DMD participants sought

The first human trial in the United States of a treatment strategy known as "exon skipping" for Duchenne muscular dystrophy (DMD) is scheduled to begin in March 2010 at Nationwide Children's Hospital in Columbus, Ohio, one of five elite centers comprising MDA's DMD Clinical Research Network.

Neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA Clinic at Nationwide, is the principal investigator.

AVI BioPharma of Bothell, Wash., developed the experimental compound, based in part on findings in the laboratory of MDA grantee Stephen Wilton at the University of Western Australia. (See "Exon Skipping Proves Effective.")

Thirty-two boys with DMD who have genetic mutations that may be helped by skipping exon 51 will receive either subcutaneous injections or intravenous infusions of the AVI exon skipping compound for 12 weeks. They must be on site in Columbus, Ohio, to receive these experimental treatments and available to return for five follow-up visits.

The new study has not yet received full regulatory approval and therefore isn't expected to begin until March 2010. However, investigators want to hear from interested participants and can help with genetic testing to determine if an applicant is eligible for the trial.

About DMD

DMD is a degenerative muscle disease caused by any of a number of mutations in the X-chromosome gene that carries instructions for the muscle protein dystrophin. Without dystrophin, muscle fibers are abnormally fragile and break down under the stress of contractions.

About exon skipping and DMD

The regions of genes that carry instructions for proteins such as dystrophin are known as "exons." During the processing of genetic information in cells, these exons are pieced together, while other information (in the form of "introns") is removed. Then, the final instructions are exported from the cell nucleus, at which time the cell can use them to make protein molecules.

Exon skipping compounds in development for DMD use molecules called "antisense" that block (keep cells from "making sense of") erroneous genetic instructions in particular exons. The goal is for the remaining, error-free exons to be spliced together to form the "recipe" for a functional dystrophin protein molecule.

About the new trial

For information, contact study coordinator Laurence Viollet at Nationwide Children's Hospital at (614) 355-2695 or

For details as they become available, see Exon Skipping-AVI BioPharma Trial to Skip Exon 51 in DMD.

For more about MDA's DMD Clinical Research Network, see "MDA Clinical Trial Network Gets to Work."

Wyatt's Mommy, Melissa said:
Noreen, how are you? How is Liam? I've seen some encouraging posts on PPMD in the last few days. Your husband went to London right? How was that? I'll bet he learned so much. Wyatt started walking 2 days ago! He's 20 months now. Everyone told us that he would walk, but we were still worried. I hope that everything is going great for you guys. Take Care.
Wait...I am a little confused. I thought the trials set to start in March were already ready to go and they would be enrolling in Feb. Thats the last I heard on it. Are you saying that they dont have all the final approval and all to get it started then and it will be delayed?

NO!! I know nothing about delays and they may, in fact, have all their ducks in a row by the anticipated start date of March 2010. I spoke to Eric Hoffman's right arm person who said that they still needed some registration stuff to clear up. Like science, nothing is exact, but it will be here soon! SIt tight, I'm sure all will be fine!!!

Samantha Dearing said:
Wait...I am a little confused. I thought the trials set to start in March were already ready to go and they would be enrolling in Feb. Thats the last I heard on it. Are you saying that they dont have all the final approval and all to get it started then and it will be delayed?


Reply to Discussion


Need help using this community site? Visit Ning's Help Page.



© 2022   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service