Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

NCT03179631 | Completed Phase 3 Results FDA Drug

• 1 other identifier: PTC124-GD-041-DMD
• Study Type: interventional
• Target: 360
• Locations: 18 countries
• Sites: 64

Brief Summary

This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

Conditions

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Disease; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Muscular Dystrophy, Duchenne

Keywords

Duchenne Muscular Dystrophy; Dystrophinopathy; Nonsense Mutation; Premature Stop Codon; Becker Muscular Dystrophy; DMD/BMD; PTC124; Ataluren

Outcome Measures

Primary Outcomes (4)

• DB Period: Change From Baseline in 6-Minute Walk Distance (6MWD) at Week 72 - Modified Intention-to-treat (mITT) Population

  The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline was defined as the maximum measurement of valid Day 1 and Day 2 6MWD values. Least square (LS) mean and standard error (SE) was calculated using the mixed-model repeated measures (MMRM).

  Baseline, Week 72

• DB Period: Change From Baseline in 6MWD at Week 72 - Intent-to-Treat (ITT) Population

  The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline was defined as the maximum measurement of valid Day 1 and Day 2 6MWD values. LS mean and SE was calculated using the MMRM.

  Baseline, Week 72

• DB Period: Average Rate of Change From Baseline in 6MWD at Week 72 - mITT Population

  The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline was defined as the maximum measurement of valid Day 1 and Day 2 6MWD values. LS mean and SE was calculated using the MMRM.

  Baseline, Week 72

• DB Period: Average Rate of Change From Baseline in 6MWD at Week 72 - ITT Population

  The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline was defined as the maximum measurement of valid Day 1 and Day 2 6MWD values. LS mean and SE was calculated using the MMRM.

  Baseline, Week 72

Secondary Outcomes (35)

• DB Period: Change From Baseline in Time to Run/Walk 10 Meters at Week 72 - mITT Population

  Baseline, Week 72

• DB Period: Change From Baseline in Time to Run/Walk 10 Meters at Week 72 - ITT Population

  Baseline, Week 72

• DB Period: Change From Baseline in Time to Climb 4 Stairs at Week 72 - mITT Population

  Baseline, Week 72

• DB Period: Change From Baseline in Time to Climb 4 Stairs at Week 72 - ITT Population

  Baseline, Week 72

• DB Period: Change From Baseline in Time to Descend 4 Stairs at Week 72 - mITT Population

  Baseline, Week 72

Study Arms (2)

Ataluren

EXPERIMENTAL

Participants will receive ataluren oral suspension 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening each day for 72 weeks in DB treatment period and for an additional 72 weeks in open-label treatment period.

Drug: Ataluren

Placebo

PLACEBO COMPARATOR

Participants will receive placebo matched to ataluren oral suspension for 72 weeks in DB treatment period. After completion of DB treatment period, 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 72 weeks in open-label treatment period.

Drug: PLACEBO

Interventions

Ataluren DRUG

10, 20 mg/kg

Also known as: PTC124

Ataluren

PLACEBO DRUG

10, 20 mg/kg

Also known as: Matching Placebo

Placebo

Eligibility Criteria

• Age: 5 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Male sex
• Age ≥5 years
• Phenotypic evidence of Duchenne Muscular Dystrophy
• Nonsense point mutation in the dystrophin gene
• Use of systemic corticosteroids (prednisone/prednisolone or deflazacort)for a minimum of 12 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen for a minimum of 3 months immediately prior to start of study treatment
• MWD ≥150 meters
• Ability to perform timed function tests within 30 seconds
• Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.

You may not qualify if:

• Any change in prophylaxis treatment for cardiomyopathy within 1 month prior to start of study treatment.
• Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
• Prior or ongoing therapy with ataluren.
• Known hypersensitivity to any of the ingredients or excipients of the study drug
• Exposure to another investigational drug within 6 months prior to start of study treatment, or ongoing participation in any interventional clinical trial.
• History of major surgical procedure within 12 weeks prior to start of study treatment, or expectation of major surgical procedure during the 72-week placebo-controlled treatment period.
• Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy.
• Uncontrolled clinical symptoms and signs of congestive heart failure
• Elevated serum creatinine or cystatin C at screening.

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (64)

Phoenix Childrens Hospital

Phoenix, Arizona, 85016, United States

Location

Children's Hospital of Los Angeles

Los Angeles, California, 90027, United States

Location

University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland

Oakland, California, 94143, United States

Location

Stanford University Medical Center

Palo Alto, California, 94305, United States

Location

University of California (UC) Davis Medical Center

Sacramento, California, 95817, United States

Location

Loma Linda University Children's Hospital

San Bernardino, California, 92408, United States

Location

Northwest Florida Clinical Research Group, LLC

Gulf Breeze, Florida, 32561, United States

Location

Indiana University Health - Riley Child Neurology

Indianapolis, Indiana, 46202, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

University of Michigan - CS Mott Children's Hospital

Ann Arbor, Michigan, 48109, United States

Location

Children's Hospital of Michigan

Detroit, Michigan, 48201, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Columbia University College of Physicians & Surgeons

New York, New York, 10032, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Shriners Hospital for Children

Portland, Oregon, 97239, United States

Location

University of Pittsburgh School of Medicine

Pittsburgh, Pennsylvania, 15224, United States

Location

Cook Childrens Medical Center

Fort Worth, Texas, 76104, United States

Location

Texas Children's Hospital

Houston, Texas, 77030, United States

Location

University of Texas Health Science Center at San Antonio

San Antonio, Texas, 78229-3900, United States

Location

University Of Utah

Salt Lake City, Utah, 84112, United States

Location

Children's Hospital of the King's Daughters

Norfolk, Virginia, 23507, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

The Childrens Hospital at Westmead

Westmead, New South Wales, 2145, Australia

Location

The Royal Childrens Hospital

Parkville, Victoria, 3052, Australia

Location

Perth Children's Hospital

Nedlands, Western Australia, 6009, Australia

Location

Queensland Children's Hospital

South Brisbane, Q4101, Australia

Location

Hospital de Clínicas da Universidade Federal de Minas Gerais

Belo Horizonte, 30130-100, Brazil

Location

Universidade Federal do Rio de Janeiro

Rio de Janeiro, 21.941-912, Brazil

Location

Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo - FMUSP

São Paulo, 05403-000, Brazil

Location

UMHAT Sofiamed

Sofia, 1793, Bulgaria

Location

Childrens Hospital London Health Sciences Centre

London, Ontario, N6A5W9, Canada

Location

Childrens Hospital of Eastern Ontario

Ottawa, Ontario, K1H8L1, Canada

Location

General Hospital of Chinese Armed Police Forces

Beijing, 100039, China

Location

The First Affiliated Hospital of Fujian Medical University

Fuzhou, 350005, China

Location

Xiangya Hospital Central South University

Hunan, 410008, China

Location

Children's Hospital of Fudan University

Shanghai, 200032, China

Location

Shenzhen Children's Hospital

Shenzhen, 518038, China

Location

Queen Mary Hospital

Hong Kong, SAR, Hong Kong

Location

Panchshil Hospital

Ahmedabad, Gujarat, 380005, India

Location

National Institute of Mental Health and Neurosciences

Bengaluru, Karnataka, 560029, India

Location

P.D. Hinduja Hospital

Māhīm, Maharashtra, 400016, India

Location

Apollo Children's Hospital Chennai

Chennai, Tamil Nadu, 600006, India

Location

Christian Medical College Hospital Vellore

Vellore, Tamil Nadu, 632004, India

Location

Nizam's Institute of Medical Sciences (NIMS)

Hyderabad, Telangana, 500082, India

Location

Apollo Gleneagles Hospital

Kolkata, West Bengal, 700054, India

Location

Postgraduate Institute of Medical Education and Research

Chandigarh, 160012, India

Location

All India Institute of Medical Sciences

New Delhi, 110029, India

Location

PTC Clinical Site

Multiple Locations, Japan

Location

Hospital Tunku Azizah Kuala Lumpur

Kuala Lumpur, 50586, Malaysia

Location

University Malaya Medical Centre (UMMC)

Pantai, 59100, Malaysia

Location

Hospital Angeles Chihuahua

Chihuahua City, 31217, Mexico

Location

Instituto Nacional de Pediatría

Mexico City, 04530, Mexico

Location

Instituto Nacional de Rehabilitacion

Tlalpan, 14389, Mexico

Location

Samodzielny Publiczny Centralny Szpital Kliniczny w Warszawie

Warsaw, 02-097, Poland

Location

University of Puerto Rico - School of Medicine

San Juan, 00936-5067, Puerto Rico

Location

Russian National Research Medical University n.a. N.I.Pirogov, structural branch - Research Clinical Institute of Pediatrics n.a. Academician Yu. E. Veltishchev

Moscow, 125412, Russia

Location

"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic Centre

Saint Petersburg, 194100, Russia

Location

Pusan National University Yangsan Hospital

Yangsan, Gyeongsangnam-do, 50612, South Korea

Location

Samsung Medical Center

Seoul, 06351, South Korea

Location

Seoul National University Hospital

Seoul, 3080, South Korea

Location

Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, 80756, Taiwan

Location

National Taiwan University Hospital

Taipei, 10002, Taiwan

Location

Siriraj Hospital

Bangkok, 10700, Thailand

Location

Istanbul University- Instanbul Medical Faculty

Istanbul, 34093, Turkey (Türkiye)

Location

Related Publications (1)

• Wu S, Vlodavets D, de Queiroz Campos Araujo AP, Castle J. Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041. J Comp Eff Res. 2026 Mar 25:e250184. doi: 10.57264/cer-2025-0184. Online ahead of print.

  PMID: 41879641 DERIVED

Related Links

• References

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

Interventions

ataluren

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

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

medinfo@ptcbio.com

1-866-562-4620

Study Officials

• Vinay Penematsa, MD

  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 3
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: A randomized, double-blind, placebo-controlled,72-week study and its 72-week open-label extension
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: This study describes the randomized, double-blind, placebo-controlled, 72-week study and its 72-week open-label extension

Study Record Dates

• First Submitted: June 1, 2017
• First Posted: June 7, 2017
• Study Start: July 6, 2017
• Primary Completion: March 5, 2022
• Study Completion: July 25, 2023
• Last Updated: March 10, 2026
• Results First Posted: March 10, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

PR (1); CA (2); TW (2); TH (1); IN (9); TU (1); US (22); MY (2); BR (3); AU (4); KR (3); ME (3); BU (1); PL (1); RU (2); JP (1); HK (1); CN (5)