In This Issue
Chicago Parent Advisory Board
Register with Beggs Lab!
Gene Replacement Therapy Clinical Trial Q&A
Chicago Parent Advisory Board

As many of you may already know, during the month of November, several MTM parents met with representatives of Audentes Therapeutics, a pharmaceutical company that is developing the technology and designing the clinical trials for gene replacement therapy. 

Because many of the patients can't speak for themselves, parental input is critical to the design of the clinical trial as we have the greatest awareness of our children's struggles and needs. Thus, parents were asked to share various kinds of challenges our children and families face in coping with day-to-day life and also what kind of measurable improvements we would like to see as an outcome of a treatment. 

Then in turn, the parents were given an opportunity to ask their questions regarding clinical trials.


Due to various constraints, participants were asked to not post the discussions publicly on social media. So I (Marie Wood) made a request to post common questions that families might have about the trials, and Barbara Wuebbels, Vice President of Patient Advocacy at Audentes, kindly answered and sent the response back to us earlier today. We've been given permission to post the following answers to the original questions I posed, which you can read in the section Gene Replacement Therapy Clinical Trial Q&A.

Please Register with the Beggs Lab!


One way to help move clinical trials forward is by registering your affected loved one. If you haven't already, please consider joining the registry at Dr. Alan Beggs Lab. Lindsay Swanson, who can be reached at, can provide you with the necessary forms to register. The Beggs Lab is collecting data that will be used in the development of the clinical trial protocol.

Our conference planning team appreciates Dr. Beggs and the research he has been doing over the years. He was also one of our keynote speakers at the 2009 and 2011 MTM-CNM Family Conferences. 

Our team is pleased to share responses to some common questions about the clincial trials for gene replacement therapy.
Gene Replacement Therapy Clinical Trial Q&A


When will the clinical trial for gene replacement therapy begin? Who will qualify to participate? How many will be selected for the trial?

Answer: The target date for starting the trial is the end of 2015 although this is fully dependent on an approval by the Regulatory Authorities (FDA in the US; EMA in Europe). The protocol is still in the process of being finalized. This includes ongoing detailed discussions with international experts and the Regulatory Authorities. Until these discussions have been completed it is not certain who will qualify for the trial, nor is it certain the number of patients that will be required.


Where or at which hospitals will trials be taking place?

Answer: There will be trial sites in the United States and in Europe. Several locations are under discussion but can't be named until all the necessary contracts are signed.


What kinds of time and travel commitments are involved to be in the trial? Who will cover the costs?

Answer: The time and travel commitment will not be finalized until the protocol is approved. Patients will need to spend a period of time at the hospital where they receive their gene therapy. Audentes will cover the travel, housing, and food for the child and their parent for the trial.


What are the possible risks and side effects?

Answer: Clinical trials carry risks because all the potential effects of a medication are not known. All of the known risks will be included in the informed consent form that parents will sign  before starting the trial.  The physician conducting the trial will have a full discussion about risks before parents sign the consent form.


If the trial is successful, what is the expected time frame that the treatment might be available to everyone else?

Answer: The timing as to when the medication is available to treat all patients, is dependent on several factors. These include the length of time to enroll the patients in to the study, the actual length of the trial, the data that emerge from the study, and the time it takes regulatory agencies to approve the submission. Likely this will be several years.


What the implications might be for those with CNM and other musculoskeletal diseases?

Answer: Currently, we are solely focused on completing the trials that are planned for MTM as the lead program, and Pompe as the second program. In the future, we may hope to be able to explore additional indications.


Will insurance cover this medication?

Answer: Discussions with insurance companies will not take place until we are closer to approval.



Audentes will provide updates to all the patient groups as more information becomes available.


The conference planning team is very grateful to Barbara and Audentes for taking the time to answer these questions. You may contact Barbara via email:


Barbara along with other representatives of Audentes Therapeutics will be attending the MTM-CNM Family Conference in July, so that will be a great opportunity to connect and get to know them in person along with all of our wonderful families!



The MTM-CNM Family Conference Planning Team!

MTM-CNM Family Connection