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: Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)

Eligibility criteria:
Inclusion Criteria:

          -  Diagnosis of DMD or BMD

          -  Presence of a nonsense mutation in the dystrophin gene

          -  Unable to ambulate independently for ≥1 year due to DMD/BMD

          -  Presence of sufficient shoulder and elbow function to perform study-related functional
             procedures (for example, 9-hole peg test)

          -  Adequate hepatic, renal, and adrenal function

          -  Ability to provide evaluable pretreatment echocardiogram and lung function assessments

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

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

        Exclusion Criteria:

          -  Initiation of systemic corticosteroid therapy within 6 months prior to start of study
             treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start
             of study treatment

          -  Use of any intermittent systemic corticosteroid therapy regimen (for example, 10 days
             on followed by 10 days off, weekend dosing, every-other-day dosing); note that
             participants must have either been receiving a daily dosing regimen of prednisone,
             prednisolone, or deflazacort at the time of enrollment into the study or must have not
             been receiving any systemic corticosteroids

          -  Any change in treatment for congestive heart failure within 3 months prior to start of
             study treatment

          -  Ongoing warfarin or phenytoin therapy

          -  Prior therapy with ataluren

          -  Known hypersensitivity to any of the ingredients or excipients of ataluren (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 1 month prior to start of study treatment
             or expectation of major surgical procedure (for example, scoliosis surgery) during the
             48-week treatment period of the study

          -  Ongoing immunosuppressive therapy (other than corticosteroids)

          -  Ongoing participation in any other clinical trial

          -  Requirement for daytime ventilator assistance

          -  Uncontrolled clinical symptoms and signs of congestive heart failure

          -  Prior or ongoing medical condition (for example, concomitant illness, psychiatric
             condition, behavioral disorder, alcoholism, drug abuse), medical history, physical
             findings, electrocardiogram (ECG) 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 7 Years old.


Eligibility (NLI label): Entailment