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 for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada

Eligibility criteria:
Inclusion Criteria:

          1. Evidence of signed and dated informed consent/assent document(s) indicating that the
             participant (and/or his parent/legal guardian) has been informed of all pertinent
             aspects of the trial. Note: If the study candidate is considered a child under local
             regulation, a parent or legal guardian must provide written consent prior to
             initiation of study screening procedures and the study candidate may be required to
             provide written assent. The rules of the responsible Institutional Review
             Board/Independent Ethics Committee (IRB/IEC) regarding whether 1 or both parents must
             provide consent and the appropriate ages for obtaining consent and assent from the
             participant should be followed.

          2. History of exposure to ataluren in a prior PTC study in nmDBMD. Note: Participants are
             considered eligible only if they received ataluren during their participation in 1 or
             more prior PTC-sponsored studies of ataluren in nmDBMD. Note: Participants who have
             participated in a prior or ongoing PTC study with ataluren in nmDBMD at a trial site
             in the US or Canada, but reside outside of the US and Canada, may be eligible for this
             study (with the approval of the PTC Therapeutics Medical Monitor).

          3. Male sex.

          4. 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.

          5. 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 should be considered.

        Exclusion Criteria:

          1. Exposure to another investigational drug within 1 month prior to start of study
             treatment.

          2. Eligibility for another ataluren clinical trial that is actively enrolling study
             participants.

          3. 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).

          4. Ongoing use of the following medications:

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

               2. Systemic aminoglycoside therapy

          5. Ongoing uncontrolled medical/surgical condition, electrocardiogram (ECG) findings, or
             laboratory abnormality that, in the Investigator's opinion, could adversely affect the
             safety of the participant or make it unlikely that follow-up would be completed.
Male
No healthy subjects accepted to join the trial.



Eligibility (NLI label): Entailment