A Phase 2 Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Ataluren (PTC124(RegisteredTM)) in Patients Aged >=2 to <5 Years Old with Nonsense Mutation Dystrophinopathy

Study ID
STU 022016-021

Cancer Related

Healthy Volunteers

Study Sites

  • Children’s Medical Center (Dallas, Plano, Southlake)

Kara Lorduy
(214) 456-8738

Principal Investigator
Susan Iannaccone, M.D.


This protocol describes a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in patients aged [GreaterThanorequalTo]2 to [Less Than]5 years old with nmDMD. in nmDMD, early start of treatment is important and necessary and, therefore, it is relevant to understand the correct and tolerable dose in this age group, particularly since ataluren is dosed by weight. The study will include a 4-week screening period, a 4-week study period, and a 48-week extension period for patients who complete the 4-week study period (52 weeks total treatment). The objective of the extension period is to assess the long-term safety of chronic administration of ataluren in this patient population.

Participant Eligibility

General inclusion criteria
1. Evidence of signed and dated informed consent document(s) indicating that the study candidate (and/or a parent/legal guardian) has been informed of all pertinent aspects of the study. Note: As all study candidates are considered children under local regulation, at least one parent or legal guardian must provide written consent prior to initiation of study-related procedures, in accordance with local regulation, 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 one or both parents must provide consent and the appropriate ages for obtaining consent and assent from the patient should be followed.
2. Males >=2 to <5 years of age
3. Body weight >=12 kg
4. Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, and study restrictions.
5. No clinically significant abnormality based upon laboratory assessments during the screening period, in the opinion of the Investigator; good general health, as determined during the screening period by medical history and physical examination (including vital sign measurements).
DMD inclusion criteria
6. Diagnosis of DMD based on an elevated serum CK and genotypic evidence of dystrinopathy. Medical documentation of phenotypic evidence of dystrophinopathy needs to be provided upon request by the PTC Therapeutics medical monitor.
7. Documentation of the presence of a nonsense mutation in at least 1 allele of the dystrophin gene.
8. Verification that a blood sample has been drawn for sequencing of the dystrophin gene. Note: A patient who has written documentation of a nonsense mutation as the cause of dystrophinopathy need not wait for confirmatory results to start study drug.