To establish a collaborative group of clinical trial centers, with standardized equipment
and protocols, able to conduct both drug and gene therapy trials in DMD. To evaluate the
therapeutic effect of glutamine and creatine monohydrate on muscle strength in children with
DMD. To validate the use of QMT (quantitative muscle strength testing) and gait analysis in
children with DMD as reliable tools to quantify muscle strength, monitor disease progression
and assess therapeutic response.
Duchenne muscular dystrophy (DMD) is the most common lethal inherited disorder worldwide.
Despite the exponential increase in our understanding of the disorder since the discovery
and characterization of the causative gene and its product dystrophin in 1987, current
therapeutic management remains largely supportive. Awaiting a final genetic cure to be
available in the future, further investments in developing better drug therapies for DMD
remain important. Not only because the uniform use of prednisone (the only drug proven to
be beneficial) is hampered by potential adverse effects, but also because it may very well
be the case that ultimately a combination of both gene and drug therapy will be needed to
cure Duchenne children. Here, we test two compounds that have shown promise in a 45-drug
screen in the mdx mouse model of Duchenne dystrophy.
The effect of glutamine (0.6/kg/day) and creatine monohydrate (5g/day) on muscle strength
will be evaluated in a multi-center randomized double-blind placebo-controlled 3-arm study.
Ambulant children aged 5-10 years with an established DMD diagnosis will be studied.
Patients will undergo 2 screening evaluations within 2 weeks. Patients will be randomized
into treatment groups on the second screening visits, followed by a 6-month treatment
period. During the treatment period, patients will be evaluated at monthly intervals. The
primary endpoints are percentage change in average muscle strength score and QMT performance
for specific muscle groups. Secondary endpoints include timed function tests, functional
grades for arms and legs, and pulmonary function tests.
Ambulant children age 5-10 years with an established diagnosis of Duchenne Muscular