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Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03179631
Recruitment Status : Active, not recruiting
First Posted : June 7, 2017
Last Update Posted : February 16, 2023
Information provided by (Responsible Party):
PTC Therapeutics

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

Condition or disease Intervention/treatment Phase
Muscular Dystrophy, Duchenne Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Disease Neuromuscular Diseases Nervous System Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Drug: Ataluren Drug: PLACEBO Phase 3

Detailed Description:
This study is a randomized, double-blind, placebo-controlled, 72-week study, followed by a 72-week open-label period. The purpose is to characterize the long-term effects of ataluren-mediated dystrophin restoration on disease progression. Participants will be randomized in a 1:1 ratio to ataluren or placebo. Participants will receive blinded study drug three times daily (TID) at morning, midday, and evening for 72 weeks, after which all participants will receive open-label ataluren for an additional 72 weeks (144 weeks in total). Study assessments will be performed at clinic visits every 12 weeks during the double-blind period and every 24 weeks during the open-label period. The total sample size of ~250 subjects will include ~160 subjects who meet the criteria for inclusion in the primary analysis population (age 7 to 16 years old, baseline six minute walk distance (6MWD) greater than or equal to (>=) 300 meters, supine to stand >= 5 seconds). The study will be conducted in the United States and other countries around the world.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 360 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description: This study describes the randomized, double-blind, placebo-controlled, 72-week study and its 72-week open-label extension
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Masking Description: A randomized, double-blind, placebo-controlled,72-week study and its 72-week open-label extension
Primary Purpose: Treatment
Official Title: A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension
Actual Study Start Date : July 6, 2017
Actual Primary Completion Date : March 5, 2022
Estimated Study Completion Date : July 20, 2023

Arm Intervention/treatment
Experimental: Ataluren
10, 20 milligrams per kilogram (mg/kg)
Drug: Ataluren
10, 20 mg/kg
Other Name: PTC124

Placebo Comparator: Placebo
10, 20 mg/kg
10, 20 mg/kg
Other Name: Matching Placebo

Primary Outcome Measures :
  1. Slope of Change in 6-Minute Walk Distance (6MWD) Over 72 Weeks [ Time Frame: 72 weeks ]

Secondary Outcome Measures :
  1. Change from Baseline to Week 72 in 6MWD [ Time Frame: Baseline, Week 72 ]
  2. Change from Baseline to Week 72 in Time to Run/Walk 10 Meters [ Time Frame: Baseline, Week 72 ]
  3. Change from Baseline to Week 72 in Time to Climb 4 Stairs [ Time Frame: Baseline, Week 72 ]
  4. Change from Baseline to Week 72 in Time to Descend 4 Stairs [ Time Frame: Baseline, Week 72 ]
  5. Change from Baseline to Week 72 in North Start Ambulatory Assessment (NSAA) Total Score [ Time Frame: Baseline, Week 72 ]
  6. Time to Loss of Ambulation Over 72 Weeks [ Time Frame: 72 weeks ]
  7. Time to Loss of Stair-Climbing Over 72 Weeks [ Time Frame: 72 Weeks ]
  8. Time to Loss of Stair-Descending Over 72 Weeks [ Time Frame: 72 weeks ]
  9. Risk of Loss of NSAA Items Over 72 weeks [ Time Frame: 72 weels ]
  10. Number of Treatment-Emergent Adverse Events Considered Related to Study Drug [ Time Frame: 72 weeks ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 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
  • 6MWD ≥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.

Exclusion Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03179631

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Sponsors and Collaborators
PTC Therapeutics
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Study Director: Vinay Penematsa, MD PTC Therapeutics, Inc.
Additional Information:
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Responsible Party: PTC Therapeutics Identifier: NCT03179631    
Other Study ID Numbers: PTC124-GD-041-DMD
First Posted: June 7, 2017    Key Record Dates
Last Update Posted: February 16, 2023
Last Verified: February 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by PTC Therapeutics:
Duchenne Muscular Dystrophy
Nonsense Mutation
Premature Stop Codon
Becker Muscular Dystrophy
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Musculoskeletal Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked