Clinical trial: Phase 1/2 Study in Boys With Duchenne Muscular Dystrophy (NCT02439216)

Eligibility criteria:
Inclusion Criteria:

          -  Written informed consent from parent or legal guardian prior to participation and, for
             patients who are 7 years of age, written assent from patient

          -  Diagnosis of DMD based on a clinical phenotype with increased serum CK and the
             presence of a mutation in the dystrophin gene known to be associated with a DMD
             phenotype

          -  Ability to walk independently (assistive devices are permitted)

          -  Adequate immunization for influenza and varicella

        Exclusion Criteria:

          -  Use of corticosteroids within prior 6 months of treatment initiation or planning to
             initiate steroid therapy within the next 6 months

          -  Other prior or ongoing significant medical conditions

          -  Exposure to another investigational drug (such as eteplirsen or idebenone) within 28
             days prior to start of study treatment or ongoing participation in any other
             therapeutic clinical trial

               -  Note: There are separate criteria for patients who participated in Part A versus
                  newly enrolling patients. New patients must meet all of the Part A entry criteria
                  to participate in Part B.

        Patients who participated in Part A must meet the following criteria to participate in Part
        B:

          -  Completed Part A

          -  Continue to meet all of the Part A entry criteria, including an absence of safety
             concerns (however, patients may be ≥8 years of age)

        There are no entry criteria for Part C; all patients who complete Part B will automatically
        continue in Part C
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 7 Years

Patient description (medical language): 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 description (patient's own words): 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.

Does the patient match the trial criteria? Contradiction