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)

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

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).

Study Overview

• Status: Completed
• Conditions: Nonsene Mutation Duchenne Muscular Dystrophy
• Intervention / Treatment: Drug: Ataluren

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.

• Study Type: Interventional
• Enrollment (Actual): 6
• Phase: Phase 2

Contacts and Locations

• Study Contact: Name: Patient Advocacy Corporate Relations; Phone Number: 1-866-562-4620; Email: medinfo@ptcbio.com

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30329
      • Rare Disease Research, LLC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months to 2 years (Child)
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Ataluren; Participants 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.	Drug: Ataluren; Ataluren will be administered as per the dose and schedule specified in the arm.; Other Names: PTC124

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Treatment-Emergent Adverse Events (TEAEs)	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.	Baseline up to Week 28

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: PTC Therapeutics
• Investigators: Study Director: Vinay Penematsa, PTC Therapeutics, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): December 29, 2021
• Primary Completion (Actual): August 7, 2023
• Study Completion (Actual): August 7, 2023

Study Registration Dates

• First Submitted: April 3, 2020
• First Submitted That Met QC Criteria: April 3, 2020
• First Posted (Actual): April 7, 2020

Study Record Updates

• Last Update Posted (Actual): April 1, 2024
• Last Update Submitted That Met QC Criteria: March 8, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Duchenne
• Other Study ID Numbers: PTC124-GD-048-DMD; 2020-000980-21 (EudraCT Number)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No