Clinical trial: Weekend Steroids and Exercise as Therapy for DMD (NCT04322357)

Eligibility criteria:
Inclusion Criteria:

          -  Diagnosis of DMD confirmed by 1) clinical history with features before the age of
             five, 2) physical examination, 3) elevated serum creatine kinase level and 4) absence
             of dystrophin expression, as determined by immunostain or Western blot (<2%) and/or
             DNA confirmation of dystrophin mutation.

          -  Age 5.0 to 8 years: a lower age limit of 5.0 years is selected as children younger
             than that are likely unable to cooperate and comply with all of the exercise measures
             as needed. An upper age limit of 8 years has been set as boys with DMD tend to reach a
             rapid progression into a late ambulatory phase soon after this age.

          -  Ambulatory at the time of the first visit, defined as the ability to walk for at least
             100 m without an external assistive device and able to climb four stairs.

          -  Aim 1 only: GC-naïve at baseline (and prior 6 months)

          -  Aim 2 only: on stable daily GC regimen for 6 months prior to baseline

        Exclusion Criteria:

          -  Contraindication to an MR examination (e.g. aneurysm clip, severe claustrophobia,
             magnetic implants)

          -  Presence of unstable medical problems, significant concomitant illness including
             cardiomyopathy or cardiac conduction abnormalities

          -  Presence of a secondary condition that impacts muscle function or muscle metabolism
             (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease)

          -  Presence of a secondary condition leading to developmental delay or impaired motor
             control (e.g. cerebral palsy)

          -  Presence of an unstable medical condition (e.g. uncontrolled seizure disorder)

          -  Behavioral problems causing an inability to cooperate during testing or understand
             exercise instruction

          -  Participation in other forms of drug or gene therapy during the period of the study
Male
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.
Subject must be at most 8 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? Entailment