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: Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)

Eligibility criteria:
Inclusion Criteria:

          -  Completion of ataluren treatment in the previous Phase 2a study (Protocol
             PTC124-GD-004-DMD).

          -  Ability to provide written informed consent (parental/guardian consent if
             applicable)/assent (if <18 years of age).

          -  Confirmed screening laboratory values within the central laboratory ranges.

          -  In participants who are sexually active, willingness to abstain from sexual
             intercourse or employ a barrier or medical method of contraception during ataluren
             administration and the 6-week follow up period.

          -  Willingness and ability to comply with scheduled visits, drug administration plan,
             study procedures, laboratory tests, and study restrictions.

        Exclusion Criteria:

          -  Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of
             study treatment.

          -  Treatment with warfarin within 1 month prior to start of study treatment.

          -  Known hypersensitivity to any of the ingredients or excipients of the study drug
             (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127
             [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla,
             Cab-O-Sil® M5P [colloidal silica], and magnesium stearate).

          -  Exposure to another investigational drug within 2 months prior to start of study
             treatment.

          -  History of major surgical procedure within 1 month prior to start of study treatment.

          -  Ongoing immunosuppressive therapy (other than corticosteroids).

          -  Ongoing participation in any other clinical trial (except for sub-studies specifically
             approved by PTC Therapeutics).

          -  Clinically significant symptoms and signs of congestive heart failure (CHF) (American
             College of Cardiology/American Heart Association Stage C or Stage D).

          -  Prior or ongoing medical condition (for example, concomitant illness, psychiatric
             condition, behavioral disorder, alcoholism, drug abuse), medical history, physical
             findings, electrocardiogram findings, or laboratory abnormality that, in the
             Investigator's opinion, could adversely affect the safety of the participant, makes it
             unlikely that the course of treatment or follow-up would be completed, or could impair
             the assessment of study results.
Male
No healthy subjects accepted to join the trial.



Eligibility (NLI label): Contradiction