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: Microdystrophin Gene Transfer Study in Adolescents and Children With DMD

Eligibility criteria:
Inclusion Criteria:

          -  Established clinical diagnosis of DMD and documented dystrophin gene mutation
             predictive of DMD phenotype

          -  Confirmed absence of dystrophin as determined by muscle biopsy (ambulatory patients)

          -  Anti-AAV9 antibodies below protocol-specified thresholds

          -  Stable cardiac and pulmonary function

          -  Adolescents: non-ambulatory by protocol-specified criteria

          -  Children: ambulatory by protocol-specified criteria

          -  Stable daily dose (or equivalent) of oral corticosteroids ≥ 12 wks

        Exclusion Criteria:

          -  Prior or ongoing medical condition or physical examination, ECG or laboratory findings
             that could adversely affect subject safety, compromise completion of treatment and
             follow-up, or impair assessment of study results

          -  Abnormal liver function

          -  Abnormal renal function

          -  Clinically significant coagulation abnormalities

          -  Impaired cardiovascular function based on cardiac MRI or ECHO

          -  Impaired respiratory function based on FVC % predicted or need for daytime ventilatory
             support

          -  Significant spinal deformity or presence of spinal rods

          -  Body mass index ≥ 95th percentile for age

          -  Exposure to another investigational drug within 3 months or 5 half-lives prior to
             screening

          -  Exposure to drugs affecting dystrophin or utrophin expression within 6 months prior to
             screening

        Additional inclusion/exclusion criteria may apply. Patients over 30 kg will not be eligible
        for treatment at this time. A weight limit of ≤ 18 kg will be implemented for the next two
        patients to be dosed.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 17 Years

Eligibility (NLI label): Entailment