Patient case (clinical description): An 8-year-old boy is brought to the clinic by his parents because of weakness and difficulty of standing up from a sitting position. The mother is healthy but had a brother who died in his 20th after being disabled and using wheelchairs in the last few years of his life. Physical examination shows 3/5 lower extremity muscle strength and enlarged calf muscles. The other physical examination and vital signs are unremarkable. Muscle biopsy showed absence of dystrophin protein. The patient is diagnosed with DMD.

Patient's own account: I brought my  8-year-old son to the doctor's clinic. He was struggling to stand up from a chair for the past few days. My wife is healthy but she was pretty worried since his brother died in his 20s after being disabled and using a wheelchair for the last years of his life. The doctor did an exam which highlighted weakness in the leg muscles and unusually large calf muscles. The rest of the exam was fine, and his vitals were normal. My son did a muscle biopsy, and it showed that the protein important for muscle strength and function is missing. The doctor diagnosed him with Duchenne muscular dystrophy.

Clinical trial: Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy

Eligibility criteria:
INCLUSION CRITERIA

          -  Aged 5 - 9 years old

          -  Able to walk without assistance

          -  Diagnosis of DMD confirmed by one of the following:

          -  a) Positive X-linked family history; or

          -  b) Dystrophin immunofluorescence and/or immunoblot, which shows complete dystrophin
             deficiency, and clinical picture consistent with DMD; or

          -  c) Gene deletion test positive in the central rod domain (exons 25 - 60) of
             dystrophin, where reading frame can be predicted as 'out-of-frame', and clinical
             picture consistent with DMD.

          -  Glucocorticosteroid-naive (i.e. has not been treated with prednisone or deflazacort
             within 1 year before the study began), or has been involved in other therapeutic
             research protocol within the last year

          -  Forced Vital Capacity (a lung function test) > 50% of predicted value

          -  Evidence of muscle weakness by MRC score or clinical functional evaluation

          -  MRC (manual muscle test) score variability no greater than 10% between screening
             visits 1 and 2

        EXCLUSION CRITERIA

          -  Failure to achieve any of the criteria listed above

          -  Symptomatic DMD carrier

          -  Symptomatic cardiomyopathy or ventricular arrhythmias

          -  Previous (6 months or less) or current use of glutamine or creatine (for DMD or any
             other indication)

          -  Use of carnitine, other amino acids, coenzyme Q10, or any herbal medicines within the
             last month

          -  History of significant concomitant illness or significant impairment of renal or
             hepatic function

          -  Evidence of allergy to chocolate or milk solids (substances will be delivered in a
             powdered hot cocoa mixture)
Male
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.
Subject must be at most 9 Years

Eligibility (NLI label): Entailment