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 Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          -  In the opinion of the investigator, the subject is capable of understanding and
             complying with protocol requirements.

          -  The subject or, when applicable, the subject's legally acceptable representative signs
             and dates a written, informed consent form and any required privacy authorization
             prior to the initiation of any study procedures.

          -  If above the age of 7, the subject signs and dates a written, informed assent form
             (IAF) and any required privacy authorization prior to the initiation of any study
             procedures.

          -  The subject must have confirmed diagnosis of Duchenne Muscular Dystrophy defined as
             muscle biopsy and dystrophin analyses consistent with DMD or DNA mutation and analysis
             by PCR or Southern blot techniques to detect gene deletions as well as:

               1. onset of weakness before 5 years of age;

               2. proximal muscle weakness;

               3. increased serum creatine kinase more than 10 times the upper limit of normal
                  (ULN);

          -  The subject is male and aged 4 to 16 years, inclusive.

          -  The subject weighs at least 13 kg and has a Body Mass Index (BMI) of ≤ 40.

          -  Willingness and ability to comply with scheduled visits, oral drug administration, and
             study procedures including blood sample draws (total blood volume collected not to
             exceed 50 mL for the study duration or 25 mL on any single study day [≤ 3 mL/kg])

          -  The subject has a life expectancy of >1 year.

          -  Up to date on all childhood vaccinations, specifically varicella vaccine (chicken
             pox).

          -  Baseline health is judged to be stable based on medical history, physical examination,
             laboratory profiles, vital signs, or ECGs at screening, as deemed by the Investigator.

          -  Continuous non smoker who has not used nicotine containing products for at least 3
             months prior to the first dose.

          -  The subject is able to take tablets.

        Exclusion Criteria:

          -  The subject has received any investigational compound and/or has participated in
             another clinical study within 90 days prior to study treatment with the exception of
             observational cohort studies or non-interventional studies.

          -  The subject has received deflazacort within 30 days or previous discontinued
             deflazacort due to an intolerable reaction.

          -  The subject is an immediate family member, study site employee, or is in a dependent
             relationship with a study site employee who is involved in the conduct of this study
             (e.g. spouse, parent, child, sibling) or may consent under duress.

          -  Any significant finding on the Columbia suicide severity rating scale (C SSRS) for
             subjects (ages 12-16, inclusive), in the opinion of the PI, warrants exclusion from
             this study.

          -  The subject has, in the judgment of the investigator, clinically significant abnormal
             clinical chemistry laboratory parameters that may affect safety at Screening.

          -  The subject has, in the judgment of the investigator, a history or current medical
             condition that could affect safety including, but not limited to:

               1. Major renal or hepatic impairment

               2. Immunosuppression or other contraindications for corticosteroid treatment

               3. History of chronic systemic fungal or viral infections

               4. Diabetes mellitus

               5. Idiopathic hypocalcuria

               6. Symptomatic cardiomyopathy at screening

          -  The subject has a history of hypersensitivity or allergic reaction to steroids or
             their formulations including, but not limited to lactose, sucrose, etc.

          -  Inability to take tablets as assessed by site investigator.

          -  Unable to refrain from or anticipates the use of:

               -  Any medications at least 4 hours before and after dosing on PK Days 1 and 8.

               -  Any vitamins, vitamins with minerals, and/or meal supplementation (e.g., Ensure,
                  Boost, etc.) at least 4 hours before and after dosing on PK Days 1 and 8.

               -  Any drug, including prescription and non prescription medications, and herbal
                  remedies known to be significant inhibitors of CYP 3A4 enzymes and/or P gp for 14
                  days prior to the first dose of study drug and throughout the study. Appropriate
                  sources will be consulted by the PI or designee to confirm lack of
                  pharmacokinetic/pharmacodynamic interaction with study drug. Acetaminophen may be
                  permitted during the study (doses to be based upon appropriate age/weight ranges.

               -  Any drugs known to be significant inducers of CYP 3A4 enzymes and/or P gp for 28
                  days prior to the first dose of study drug and throughout the study. Appropriate
                  sources will be consulted by the PI or designee to confirm lack of
                  PK/pharmacodynamics interaction with study drug.

          -  Subject is mentally or legally incapacitated or has significant emotional problems at
             the time of screening visit or expected during the conduct of the study.

          -  History of any illness that, in the opinion of the PI, might confound the results of
             the study or poses an additional risk to the subject by their participation in the
             study.

          -  Positive urine drug or alcohol results at screening or check in.

          -  Positive urine cotinine at screening.

          -  Positive results at screening for HIV, HBsAg, or HCV.

          -  Hemoglobin level below the lower limit of normal at screening.

          -  Donation of blood or significant blood loss within 56 days prior to the first dose of
             study drug.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 16 Years

Eligibility (NLI label): Entailment