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)

NCT04336826 | Completed Phase 2 Results FDA Drug

• 2 other identifiers: PTC124-GD-048-DMD2020-000980-21
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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).

Conditions

Nonsene Mutation Duchenne Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• 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

Study Arms (1)

Ataluren

EXPERIMENTAL

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

Interventions

Ataluren DRUG

Ataluren will be administered as per the dose and schedule specified in the arm.

Also known as: PTC124

Ataluren

Eligibility Criteria

• Age: 6 Months - 2 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• 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:
• 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).

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (1)

Rare Disease Research, LLC

Atlanta, Georgia, 30329, United States

Location

MeSH Terms

Interventions

ataluren

Results Point of Contact

• Title: Patient Advocacy
• Organization: PTC Therapeutics, Inc.

medinfo@ptcbio.com

1-866-562-4620

Study Officials

• Vinay Penematsa

  PTC Therapeutics, Inc.

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 3, 2020
• First Posted: April 7, 2020
• Study Start: December 29, 2021
• Primary Completion: August 7, 2023
• Study Completion: August 7, 2023
• Last Updated: April 1, 2024
• Results First Posted: April 1, 2024

Record last verified: 2024-02

Locations

US (1)