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: Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          -  Diagnosis of DMD based on a clinical phenotype presenting by age 5, with increased
             serum CK and decrease of dystrophin on a muscle biopsy

          -  Presence of a nonsense mutation in the dystrophin gene

          -  Physical examination or radiographic imaging documenting the presence of EDB or TA
             muscles in both legs

          -  Ability to ambulate, or if non-ambulatory, then not requiring ventilator support

          -  Male sex

          -  Age ≥ 5 years

          -  Willingness to abstain from sexual intercourse or employ a barrier or medical method
             of contraception during the study drug administration and follow-up periods in
             subjects known to be sexually active

          -  Willingness and ability to comply with scheduled visits, drug administration plan,
             laboratory tests, study restrictions, and study procedures (including muscle biopsies,
             myometry, and PK sampling)

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

        Exclusion Criteria:

          -  Prior or ongoing medical condition (e.g., concomitant illness, psychiatric condition,
             alcoholism, drug abuse), medical history, physical findings, ECG findings, or
             laboratory abnormality that, in the investigator's opinion, could adversely affect the
             safety of the subject, makes it unlikely that the course of treatment or follow-up
             would be completed, or could impair the assessment of study results

          -  Clinical symptoms and signs of congestive cardiac failure

          -  Positive hepatitis B surface antigen, hepatitis C antibody test, or human
             immunodeficiency virus (HIV) test

          -  Hemoglobin <10 g/dL

          -  Serum albumin <2.5 g/dL

          -  Abnormal GGT or total bilirubin (>laboratory's upper limit of normal)

          -  Abnormal renal function (serum creatinine >1.5 times laboratory's upper limit of
             normal)

          -  History of solid organ or hematological transplantation

          -  Ongoing immunosuppressive therapy (other than corticosteroids)

          -  Exposure to another investigational drug within 28 days prior to start of study
             treatment

          -  Ongoing participation in any other therapeutic clinical trial

          -  Ongoing use of thiazolidinedione peroxisome proliferator-activated receptor gamma
             (PPAR γ) agonists, e.g., rosiglitazone (Avandia® or equivalent) or pioglitazone
             (Actos® or equivalent)

          -  Change in systemic corticosteroid therapy (e.g., initiation of treatment; cessation of
             treatment; change in dose, schedule, or type of steroid) within 3 months prior to
             start of study treatment.

          -  Treatment with systemic aminoglycoside antibiotics within 4 weeks prior to start of
             study treatment
Male
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.


Eligibility (NLI label): Entailment