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 Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Eligibility criteria:
Inclusion Criteria:

          -  Body weight ≥7.5 kilograms (kg)

          -  No clinically significant abnormality based upon laboratory assessments during the
             screening period, in the opinion of the Investigator; good general health, as
             determined during the screening period by medical history and physical examination
             (including vital sign measurements).

          -  Diagnosis of duchenne muscular dystrophy (DMD) based on an elevated serum creatine
             kinase and genotypic evidence of dystrophinopathy.

          -  Documentation of the presence of a nonsense mutation of the dystrophin gene.

          -  Verification that a blood sample was drawn for sequencing of the dystrophin gene.

        Exclusion Criteria:

          -  Participation in any drug investigation or received an investigational drug within
             three months prior to the Screening Visit or who anticipate participating in any other
             drug or device clinical investigation or receiving any other investigational drug
             within the duration of this study.

          -  Expectation of a major surgical procedure during the study period.

          -  Known hypersensitivity to any of the ingredients or excipients of the study drug
             (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone
             XL10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate).

          -  Prior and concomitant use of corticosteroids.

          -  Ongoing use of the following drugs:

               1. Systemic aminoglycoside therapy and/or intravenous (IV) vancomycin.

               2. Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or
                  paclitaxel.

               3. Inducers of UGT1A9 (for example, rifampicin), or substrates of OAT1 or OAT3 (for
                  example, ciprofloxacin, adefovir, oseltamivir, aciclovir, captopril, furosemide,
                  bumetanide, valsartan, pravastatin, rosuvastatin, atorvastatin, pitavastatin).
Male
No healthy subjects accepted to join the trial.
Subject must be at least 6 Months old.
Subject must be at most 2 Years

Eligibility (NLI label): Contradiction