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: A Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)

Eligibility criteria:
Inclusion Criteria:

          1. Subject's parent or legal guardian has provided written informed consent/Health
             Insurance Portability and Accountability Act (HIPAA) authorization prior to any
             study-related procedures;

          2. Subject has a confirmed (by Central Genetic Counselor) diagnosis of DMD as defined as:

               1. Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin
                  deficiency, and clinical picture consistent with typical DMD, OR

               2. Identifiable mutation within the DMD gene (deletion/duplication of one or more
                  exons) where reading frame can be predicted as 'out-of-frame', and clinical
                  picture consistent with typical DMD, OR

               3. Complete dystrophin gene sequencing showing an alteration (point mutation,
                  duplication, other) that is expected to preclude production of the dystrophin
                  protein (i.e. nonsense mutation, deletion/duplication leading to a downstream
                  stop codon), with a typical clinical picture of DMD;

          3. Subject is ≥ 4 years and < 7 years of age at time of enrollment in the study;

          4. Subject is able to complete the Time to Stand Test (TTSTAND) without assistance, as
             assessed at the Screening and Baseline Visits;

          5. Clinical laboratory test results are within the normal range at the Screening Visit,
             or if abnormal, are not clinically significant, in the opinion of the Investigator.
             (Note: Serum gamma glutamyl transferase [GGT], creatinine, and total bilirubin all
             must be ≤ upper limit of the normal range at the Screening Visit);

          6. Subject has evidence of chicken pox immunity as determined by presence of IgG
             antibodies to varicella, as documented by a positive test result from the testing
             laboratory at the Screening Visit; and

          7. Subject and parent/guardian are willing and able to comply with scheduled visits,
             study drug administration plan, and study procedures.

        Exclusion Criteria:

          1. Subject has current or history of major renal or hepatic impairment, diabetes mellitus
             or immunosuppression;

          2. Subject has current or history of chronic systemic fungal or viral infections;

          3. Subject has had an acute illness within 4 weeks prior to the first dose of study
             medication;

          4. Subject has used mineralocorticoid receptor agents, such as spironolactone,
             eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium),
             mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study
             medication;

          5. Subject has evidence of symptomatic cardiomyopathy. [Note: Asymptomatic cardiac
             abnormality on investigation would not be exclusionary];

          6. Subject is currently being treated or has received previous treatment with oral
             glucocorticoids or other immunosuppressive agents. [Notes: Past transient use of oral
             glucocorticoids or other oral immunosuppressive agents for no longer than 3 months
             cumulative, with last use at least 3 months prior to first dose of study medication,
             will be considered for eligibility on a case-by-case basis. Inhaled and/or topical
             corticosteroids prescribed for an indication other than DMD are permitted but must be
             administered at stable dose for at least 3 months prior to study drug administration];

          7. Subject has used idebenone within 4 weeks prior to the first dose of study medication;

          8. Subject has an allergy or hypersensitivity to the study medication or to any of its
             constituents;

          9. Subject has severe behavioral or cognitive problems that preclude participation in the
             study, in the opinion of the Investigator;

         10. Subject has 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;

         11. Subject is taking any other investigational drug currently or has taken any other
             investigational drug within 3 months prior to the start of study treatment; or

         12. Subject has previously been enrolled in the study.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 6 Years

Eligibility (NLI label): Contradiction