Exon Deletion 52

  • Holly Cahoon

    My son has deletion 52. Wondering what other mother's sons have the same deletion and what research has been made with Exon skipping for this deletion.
  • jennifer renshaw

    My son also has deletion 52. There is a trial at Ohio State that targets 52. My son may become part of that trial. We will see.
  • jennifer renshaw

    I am not sure of all the details yet. When I find out I would be happy to let you know. Have a safe trip.
  • jennifer renshaw

    Well we are in the process of gaining information about a clinical trial that is on going at The Research Institute at Nationwide Childrens Hospital/Columbus Ohio. Doctor is Dr. Jerry Mendell(jerry.mendell@nationwidechildres.org). Clinical Research Coordinator is Laurence Viollet(laurence.viollet@nationwidechildres.org). The inclusion criteria: deletion of exon 52 and must be over age 5. They are looking for 3 patients for trial to begin in the summer. The trial will consist of injection of small foot muscle, and biopsy of site 6 weeks later. The study will take 2 years, but patients will only need to be seen during the first 2 months. The results of this trial are necessary for FDA approval of vascular delivery in the future. That's all I know for now. Once I find out what the biopsy consists of, we may be taking a trip to Columbus. Andrew, who is 14, is all about this, as he understands what it could mean for the future.
  • Holly Cahoon

    That's awesome! Hopefully Andrew will benefit from this. Do you know if they need more patients for the trial? Has the trail already started? Good Luck and God Bless.
  • jennifer renshaw

    It is awsome. The trial has not started yet. We are waiting to hear about dates. I believe that they do need more patients. Andrew will not benefit from this in the short term, but long term possibilities could be amazing. Take care and God bless you and yours.
  • Holly Cahoon

    Good Luck, let me know how it goes for Andrew. I would be interested in having my son join the trial group, if they still needed anyone and it hasn't already started of course.
  • jenn

    is anyone thinking about the nationwide childrens hospital avi biopharm trial of exon 51 skipping? both my boys have a deletion of 52, and we have been talking back and forth with the trial coordinator. the trial is scheduled to begin in march, if it gets final approval.
  • Cori

    We have...we are waiting to get into the Duchenne Clinic here at Rani Children's Hospital, but we are definitely thinking about it...I'll let you know all the details (side effects, etc) they pass onto us when we get more details.
  • jenn

    its been a while since anyone commented, but big things could be happening for those with an exon 52 deletion...any non ambulatory boys scheduled to head to columbus for the 51 skipping trial of prosensa? my oldest boy austin is supposed to , they say august! also the AVI was quite delayed but rumored to begin october...ambulatory, in columbus, phase 1b/2. interested if anyone else is headed that way!
  • Cori

    Jenn, we have our son Trey signed up for the Ambulatory 51 skipping with AVI...we have been in contact with them over that way and they said that they were in the process and just recently followed up with us regarding whether Trey was still ambulatory, heart conditions, blood pressure, steroids, etc, not the basic stuff like just needing the genetic report which is exciting, they said they were delayed and I have no clue how this clinical thing works (do they help with transportation, etc we live in Cali) but we have Trey's information in their hands and just waiting, waiting, waiting... Excited for your son! Cori
  • jenn

    cori, max, my 8 year old is "signed up' for this as well,...just found out today that austin (11) will be begining the non ambulatory prosensa in columbus july 29th. yes, they do pay for travel, lodging, and food, for two parents and the child. we may be spending lots of time in ohio this year, luckily my father lives there! keep me posted on your progress, or if you hear anything
  • Holly Cahoon

    My son is going in August, I'm so ecxited for him to be able to be part of this trial. We live in Utah and so thankful they pay for the traveling and lodging. Keeping my fingers crossed for all of us. :)
  • Cori

    Awesomeness ladies, I guess Jenn you would be the one to potentially know since Austin is getting ready to start are they making you stay there for the full 14 weeks or are they allowing you to go back and forth...this could make school a little difficult, but regardless we will take it =) At least we are moving somewhere with all this advances!!!!
  • jenn

    holly, when in august? we have a tentative aug 8th and 9th in hosital for the actual injection, 12th and 16th for apointments, we will be staying from the 8th trhough the 16th. love to meet u if you are there then. cori, they give you any option you want as far as travel, you can fly back and forth or stay the whole time. they seem very interested in being accomidating to each family