A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From >=6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

study id #: NCT04336826

condition: Nonsene Mutation Duchenne Muscular Dystrophy

status: not yet recruiting

purpose:

This study is designed to evaluate safety, tolerability, physical and motor development, and pharmacokinetics (PK) in children aged >=6 months to <2 years treated daily for 52 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).

intervention: Ataluren

mechanism of action: Stop codon read through to promote dystrophin production

results: https://clinicaltrials.gov/ct2/show/results/NCT04336826?view=results

last updated: August 26, 2020

start date: June 1, 2021

estimated completion: June 20, 2023

phase of development: Phase 2

size / enrollment: 6

primary outcomes:

• Number of Participants With Treatment-Emergent Adverse Events [ Time Frame: Baseline up to Week 56 ]

secondary outcomes:

• Pharmacokinetics: Area Under the Concentration Curve (AUC0-24) [ Time Frame: Day 1, Week 4, and at the end of study (Week 52) or early termination, whichever is first ]
  
• Pharmacokinetics: Maximum Concentration (Cmax) [ Time Frame: Day 1, Week 4, and at the end of study (Week 52) or early termination, whichever is first ]
  
• Pharmacokinetics: Time to Maximal Plasma Concentration (Tmax) [ Time Frame: Day 1, Week 4, and at the end of study (Week 52) or early termination, whichever is first ]
  
• Pharmacokinetics: Half-Life (t1/2) [ Time Frame: Day 1, Week 4, and at the end of study (Week 52) or early termination, whichever is first ]

inclusion criteria:

• Body weight >=7.5 kilograms (kg)
• 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).
• Diagnosis of duchenne muscular dystrophy (DMD) based on an elevated serum creatine kinase and genotypic evidence of dystrophinopathy.
• Documentation of the presence of a nonsense mutation of the dystrophin gene.
• Verification that a blood sample was drawn for sequencing of the dystrophin gene.

exclusion criteria:
• Participation in any drug investigation or received an investigational drug within three months prior to the Screening Visit or who anticipate participating in any other drug or device clinical investigation or receiving any other investigational drug within the duration of this study.
• Expectation of a major surgical procedure during the study period.
• Known hypersensitivity to any of the ingredients or excipients of the study drug (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate).
• Prior and concomitant use of corticosteroids.
• Ongoing use of the following drugs:
- Systemic aminoglycoside therapy and/or intravenous (IV) vancomycin.
- Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel.
- Inducers of UGT1A9 (for example, rifampicin), or substrates of OAT1 or OAT3 (for example, ciprofloxacin, adefovir, oseltamivir, aciclovir, captopril, furosemide, bumetanide, valsartan, pravastatin, rosuvastatin, atorvastatin, pitavastatin).

sponsor: PTC Therapeutics

contacts: 1-866-562-4620, medinfo@ptcbio.com

investigators: Francesco Bibbiani