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 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)

Eligibility criteria:
Inclusion Criteria:

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

          -  Male sex.

          -  Age ≥5 years.

          -  Phenotypic evidence of DMD/BMD based on the onset of characteristic clinical symptoms
             or signs (that is, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 9
             years of age, an elevated serum CK level, and ongoing difficulty with ambulation.

          -  Documentation of the presence of a nonsense point mutation in the dystrophin gene as
             determined by gene sequencing from a laboratory certified by the College of American
             Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA), or an
             equivalent organization.

          -  Documentation that a blood sample has been drawn for confirmation of the presence of a
             nonsense mutation in the dystrophin gene.

          -  Ability to walk ≥75 meters unassisted during the screening 6-minute walk test. Note:
             Other personal assistance or use of assistive devices for ambulation (for example,
             short leg braces, long leg braces or walkers) were not permitted.

          -  Confirmed screening laboratory values within the central laboratory ranges (hepatic,
             adrenal, renal, and serum electrolytes parameters).

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

          -  Willingness and ability to comply with scheduled visits, drug administration plan,
             study procedures, laboratory tests, and study restrictions. Note: Psychological,
             social, familial, or geographical factors that might preclude adequate study
             participation (in particular, the ability to satisfactorily perform the 6MWT) should
             have been considered.

        Exclusion Criteria:

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

          -  Initiation of systemic corticosteroid therapy within 6 months prior to start of study
             treatment or change in systemic corticosteroid therapy (for example, initiation,
             change in type of drug, dose modification not related to body weight change, schedule
             modification, interruption, discontinuation, or reinitiation) within 3 months prior to
             start of study treatment.

          -  Any change (initiation, change in type of drug, dose modification, schedule
             modification, interruption, discontinuation, or reinitiation) in prophylaxis/treatment
             for congestive heart failure within 3 months prior to start of study treatment.

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

          -  Prior therapy with ataluren.

          -  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], magnesium stearate).

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

          -  History of major surgical procedure within 30 days prior to start of study treatment.

          -  Ongoing immunosuppressive therapy (other than corticosteroids).

          -  Ongoing participation in any other therapeutic clinical trial.

          -  Expectation of major surgical procedure (for example, scoliosis surgery) during the
             12-month treatment period of the study.

          -  Requirement for daytime ventilator assistance.

          -  Clinical symptoms and signs of congestive heart failure (American College of
             Cardiology/American Heart Association Stage C or Stage D) or evidence on
             echocardiogram of clinically significant myopathy.

          -  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.
Subject must be at least 5 Years old.


Eligibility (NLI label): Entailment