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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)

Phase 2
Completed
Conditions
Nonsene Mutation Duchenne Muscular Dystrophy
Interventions
Registration Number
NCT04336826
Lead Sponsor
PTC Therapeutics
Brief Summary

This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to \<2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).

Detailed Description

Participants who complete the 24-week treatment period in this study will be offered participation to a follow-up extension period for at least 52 weeks from the date of first administration of ataluren in this parent study.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
6
Inclusion Criteria
  • Body weight ≥7.5 kilograms (kg)
  • 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 as determined by gene sequencing prior to enrollment.
Exclusion Criteria
  • Participation in any drug or device investigation or whose sibling is currently participating in a blinded portion of another ataluren study 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).

  • Ongoing use of the following drugs:

    1. Systemic aminoglycoside therapy and/or intravenous (IV) vancomycin.
    2. Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel.
    3. 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).

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
AtalurenAtalurenParticipants will receive ataluren oral suspension 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 24 weeks.
Primary Outcome Measures
NameTimeMethod
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)Baseline up to Week 28

An adverse event (AE) was as any untoward medical occurrence associated with the use of a drug in humans, whether or not considered drug related. Serious adverse event (SAE): an AE that met at least 1 of the following criteria: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability/incapacity or substantial disruption of the ability to conduct normal life functions, congenital anomaly/birth defect, important medical event. A TEAE was defined as an AE that occurred or worsened while on ataluren (on or after first dose of ataluren) up to 4 weeks after the last dose. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Reported Adverse Events' Section.

Secondary Outcome Measures
NameTimeMethod
Area Under the Concentration-Time Curve Between Dosing Interval (AUC0-τ) of AtalurenPredose up to 12 hours postdose at Week 24
Trough Concentration (Ctrough) of AtalurenPredose up to 12 hours postdose at Week 24
Maximum Concentration (Cmax) of AtalurenPredose up to 12 hours postdose at Week 24
Time to Maximum Plasma Concentration (Tmax) of AtalurenPredose up to 12 hours postdose at Week 24
Area Under the Concentration-Time Curve From Time 0 to 24 Hours (AUC0-24) of AtalurenPredose up to 12 hours postdose at Week 24

Trial Locations

Locations (1)

Rare Disease Research, LLC

🇺🇸

Atlanta, Georgia, United States

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