Requirements of the Trial

In order for you to understand if participation in this trial is right for your son, you should understand what is expected during this trial. Prior to starting any clinical trial, you will be asked to sign an informed consent form (as the legal guardian) which provides detailed information about the trial design, purpose, procedures, risks and benefits, who to contact if you have questions about the trial and who has access to the data generated from this trial. You should take your time reading the informed consent document and ask as many questions as you want to the trial staff and doctor prior to signing it. Depending on your child’s age and the requirements of the local site, your son may also be asked to agree to participate (verbally) and/or read and sign a form called an assent document.


  • How long is this trial?

    Your participation in this trial will last approximately 2 years. There are a total of 28 visits in this trial.   Theses visits include:

    • 1 – Screening visit
    • 1 – Baseline visit
    • 24 – Investigational drug dosing visits
    • 2 – Follow-up visits

    As part of your decision to participate, you and your son must be willing to return for all the scheduled visits and complete the necessary trial procedures.   You can withdraw from the trial at any time, for any reason. Of course, we would prefer full participation. If you do decide to withdraw early, you will be asked to participate in Early Withdrawal testing and evaluations.


  • What will happen during the trial visits?

    There are several procedures done at each visit.   Some of the procedures are required to be performed at a certain time of day and in a certain order, as your son’s activity level may influence their outcome. If the tests are not performed within a certain time frame and order, the results may not be consistent with other participant’s data from the trial and may make interpreting the results from this trial difficult.   For this reason there are approximately 8 visits that that we will schedule over a 2-day time period.  If needed, overnight accommodations and travel arrangements (depending on the country you are in) to the hospital or clinic may be provided for your convenience.


  • What are the trial procedures?

    Below is a brief description of some of the procedures to be performed during your visits to the trial site. This is not a complete list of tests that will be required. All of the trial procedures are described in the consent form and you will have the opportunity to discuss these with the study doctor prior to your son’s participation in the study.

    The trial procedures include:

    • Collecting information about your son’s medical history, his diagnosis and any current or previous medications taken.
    • Collecting information regarding his participation in other clinical studies.
    • Performing a physical exam (including blood pressure, pulse, body temperature, height and weight).
    • Collecting blood samples (multiple times a visit). Some of the blood tests require fasting and others do not.  If fasting is required, your child will be fed after the test is complete.  The site may use a topical medication on the skin to numb the area where the blood will be drawn and they may place a catheter to avoid multiple needle sticks.

Please click on the procedures below to learn more about each one.

Imaging Assessments

Imaging assessments include magnetic resonance imaging (MRI) of the thigh and liver.   At some sites, they may also perform a cardiac MRI of the heart (with or without a contrast agent).   The MRI requires that a child lies still on the MRI table which is slid into the MRI tube.  The machine makes loud noises. Your son will be made as comfortable as possible (without medication) during the procedures. Headsets may be provided to your son and some sites may allow the parents to sit with the child during the MRI can take anywhere from 15 minutes to 1 hour for each type of scan (thigh, liver or heart).  The MRI technicians will work with your son to explain how the test is done to help him anticipate what an MRI procedure is like.

Other imaging performed will include duel-energy x-ray absorptiometry (DXA) and x-ray.   The DXA scan requires that your child lies on a table for approximately 15 minutes.  Your son will be asked to not eat a big meal within the 2 hours prior to the scan as the amount of food in his stomach may alter the machine’s ability to correctly record his muscle, fat, and bone measurements.

An x-ray of the hand and wrist will also be done.

Functional Assessments

The functional assessments (evaluations of a person’s ability to manage physical) will include:

  • Pulmonary Function Test
  • Ability to climb up and down 4 stairs
  • The Northstar Ambulatory Assessment
  • Range of motion of his ankles
  • Strength measures of his legs and arms
  • Function of his shoulders, elbows and hands on a Performance of Upper Limb test
  • The six minute walk test

It will be important that your son is able to follow instructions to perform these tests.  These evaluations are performed by clinical evaluators who have been trained to administer these assessments for this trial.

How is the study medication given?

The investigational drug or placebo is given through an intravenous (IV) infusion over a 2-hour time period.  The infusion is once per month (every 4 weeks). To make your son more comfortable, a topical anesthetic can be applied to numb the area prior to placing the infusion needle. During the infusion the site may also offer your son movies to watch or music to listen to in an effort to make him as comfortable as possible.