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: Safety and Dose Finding Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)

Eligibility criteria:
Inclusion Criteria:

          -  Male ≥ 4 years and <10 years of age

          -  Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon
             53 to restore the dystrophin mRNA reading frame;

          -  Able to walk independently without assistive devices;

          -  Ability to complete the time to stand, time to run/walk and time to climb assessments;

          -  Stable dose of glucocorticoid for at least 3 months

        Exclusion Criteria:

          -  Acute illness within 4 weeks prior to the first dose of study medication;

          -  Evidence of symptomatic cardiomyopathy. [Note: Asymptomatic cardiac abnormality on
             investigation would not be exclusionary];

          -  Severe allergy or hypersensitivity to medications;

          -  Severe behavioral or cognitive problems that preclude participation in the study, in
             the opinion of the Investigator;

          -  Previous or ongoing medical condition, medical history, physical findings or
             laboratory abnormalities that could affect safety, make it unlikely that treatment and
             follow-up will be correctly completed or impair the assessment of study results, in
             the opinion of the Investigator;

          -  Patient is taking any other investigational drug currently or within 3 months prior to
             the start of study treatment; or

          -  Patient has had surgery within the 3 months prior to the first anticipated
             administration of study medication or surgery is planned for anytime during the
             duration of the study;

          -  Patient has previously participated in this study or any other study during which
             NS-065/NCNP-01 was administered.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 9 Years

Eligibility (NLI label): Entailment