Clinical trial NCT04336826: 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)
Official title: An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Nonsene Mutation Duchenne Muscular Dystrophy
Lead sponsor: PTC Therapeutics
Sponsor class: INDUSTRY
First posted: 2020-04-07
Enrollment: 6
Sex: MALE
Minimum age (years): 6
Maximum age (years): 2
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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).

Primary outcomes:
measure: Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
timeFrame: Baseline up to Week 28
Secondary outcomes:
measure: Area Under the Concentration-Time Curve From Time 0 to 24 Hours (AUC0-24) of Ataluren
timeFrame: Predose up to 12 hours postdose at Week 24
measure: Area Under the Concentration-Time Curve Between Dosing Interval (AUC0-τ) of Ataluren
timeFrame: Predose up to 12 hours postdose at Week 24
measure: Maximum Concentration (Cmax) of Ataluren
timeFrame: Predose up to 12 hours postdose at Week 24
measure: Time to Maximum Plasma Concentration (Tmax) of Ataluren
timeFrame: Predose up to 12 hours postdose at Week 24
measure: Trough Concentration (Ctrough) of Ataluren
timeFrame: Predose up to 12 hours postdose at Week 24
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Rare Disease Research, LLC
state: Georgia
Study officials:
affiliation: PTC Therapeutics, Inc.
name: Vinay Penematsa
role: STUDY_DIRECTOR
References: