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: Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          -  Patients 8 - 16 years of age at time of enrolment

          -  Male

          -  Presence of cardiac involvement/dysfunction, defined by abnormal peak systolic strain
             in left ventricle (LV) inferolateral wall

          -  Confirmed diagnosis of DMD (out of frame dystrophin gene deletion OR absent/<5%
             dystrophin protein on muscle biopsy; clinical picture consistent of typical DMD)

          -  If on chronic glucocorticosteroids treatment (deflazacort, prednisone) for DMD (or any
             other disease) (i.e. concomitant medication): dosage must be stable (unchanged) 6
             months prior to inclusion

          -  If on chronic medication for DMD associated cardiomyopathy (β-blocker, diuretics):
             dosage must be stable (unchanged) 3 months prior to inclusion

          -  Ability to provide reproducible repeat quantitative muscle testing (QMT) upper limb
             score within 15% of first assessment score (at Visit1/Day 1 versus Screening Visit

        Exclusion Criteria:

          -  Symptomatic cardiomyopathy or heart failure

          -  Asymptomatic but severe cardiac dysfunction on baseline (Screening) evaluation:
             Fractional shortening (FS) < 20% and/or Ejection fraction (EF) < 40%

          -  Use of ACE-inhibitors

          -  Previous history of ventricular arrhythmias (other than isolated ventricular
             extrasystole); ventricular arrhythmias presented at Screening

          -  Previous (6 months or less) participation in any other therapeutic trial for DMD

          -  Use of coenzymeQ10, idebenone, creatine, glutamine, oxatomide, or any herbal medicines
             within the last 6 months

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

          -  Known individual hypersensitivity to idebenone
Male
No healthy subjects accepted to join the trial.
Subject must be at least 8 Years old.
Subject must be at most 16 Years

Eligibility (NLI label): Entailment