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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 : March 31, 2022
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
Estimated Primary Completion Date : May 1, 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

Hide Hide 72 study locations
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United States, Arizona
Phoenix Childrens Hospital
Phoenix, Arizona, United States, 85016
United States, California
Children's Hospital of Los Angeles
Los Angeles, California, United States, 90027
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
Oakland, California, United States, 94143
Stanford University Medical Center
Palo Alto, California, United States, 94305
University of California (UC) Davis Medical Center
Sacramento, California, United States, 95817
Loma Linda University Children's Hospital
San Bernardino, California, United States, 92408
United States, Florida
Child Neurology Center of Northwest Florida
Gulf Breeze, Florida, United States, 32561
United States, Indiana
Indiana University Health - Riley Child Neurology
Indianapolis, Indiana, United States, 46202
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Michigan
University of Michigan - CS Mott Children's Hospital
Ann Arbor, Michigan, United States, 48109
Children's Hospital of Michigan
Detroit, Michigan, United States, 48201
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, New York
Columbia University College of Physicians & Surgeons
New York, New York, United States, 10032
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
United States, Oregon
Shriners Hospital for Children
Portland, Oregon, United States, 97239
United States, Pennsylvania
University of Pittsburgh School of Medicine
Pittsburgh, Pennsylvania, United States, 15224
United States, Texas
Cook Childrens Medical Center
Fort Worth, Texas, United States, 76104
Texas Children's Hospital
Houston, Texas, United States, 77030
University of Texas Health Science Center at San Antonio
San Antonio, Texas, United States, 78229-3900
United States, Utah
University Of Utah
Salt Lake City, Utah, United States, 84112
United States, Virginia
Children's Hospital of the King's Daughters
Norfolk, Virginia, United States, 23507
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Australia, New South Wales
The Childrens Hospital at Westmead
Westmead, New South Wales, Australia, 2145
Australia, Victoria
The Royal Childrens Hospital
Parkville, Victoria, Australia, 3052
Australia, Western Australia
Perth Children's Hospital
Nedlands, Western Australia, Australia, 6009
Queensland Children's Hospital
South Brisbane, Australia, Q4101
Hospital de Clínicas da Universidade Federal de Minas Gerais
Belo Horizonte, Brazil, 30130-100
Universidade Federal do Rio de Janeiro
Rio De Janeiro, Brazil, 21.941-912
Sao Paulo University
São Paulo, Brazil, 05403-000
UMHAT Sofiamed
Sofia, Bulgaria, 1793
Canada, Ontario
Childrens Hospital London Health Sciences Centre
London, Ontario, Canada, N6A5W9
Childrens Hospital of Eastern Ontario
Ottawa, Ontario, Canada, K1H8L1
General Hospital of Chinese Armed Police Forces
Beijing, China, 100039
The First Affiliated Hospital of Fujian Medical University
Fuzhou, China, 350005
Xiangya Hospital Central South University
Hunan, China, 410008
Children's Hospital of Fudan University
Shanghai, China, 200032
Shenzhen Children's Hospital
Shenzhen, China, 518038
Hong Kong
Queen Mary Hospital
Hong Kong, Hong Kong, SAR
Panchshil Hospital
Ahmedabad, Gujarat, India, 380005
National Institute of Mental Health and Neurosciences
Bengaluru, Karnataka, India, 560029
P.D. Hinduja Hospital
Mahim, Maharashtra, India, 400016
Apollo Children's Hospital Chennai
Chennai, Tamil Nadu, India, 600006
Christian Medical College Hospital Vellore
Vellore, Tamil Nadu, India, 632004
Nizam's Institute of Medical Sciences (NIMS)
Hyderabad, Telangana, India, 500082
Apollo Gleneagles Hospital
Kolkata, West Bengal, India, 700054
Postgraduate Institute of Medical Education and Research
Chandigarh, India, 160012
All India Institute of Medical Sciences
New Delhi, India, 110029
National Hospital Organization Higashisaitama National Hospital
Hasuda-city, Japan
National Center of Neurology and Psychiatry
Kodaira, Japan
Kumamoto University Hospital
Kumamoto-shi, Japan
Kyoto University Hospital
Kyoto, Japan
Nagoya City University Hospital
Nagoya-shi, Japan
Hyogo College of Medicine Hospital
Nishinomiya, Japan
Miyagi Children's Hospital
Sendai, Japan
National Hospital Organization Toneyama National Hospital
Toyonaka-shi, Japan
Tottori University Hospital
Yonago, Japan
Korea, Republic of
Pusan National University Yangsan Hospital
Yangsan, Gyeongsangnamdo, Korea, Republic of, 50612
Samsung Medical Center
Seoul, Korea, Republic of, 06351
Seoul National University Hospital
Seoul, Korea, Republic of, 3080
Hospital Tunku Azizah Kuala Lumpur
Kuala Lumpur, Malaysia, 50586
University Malaya Medical Centre (UMMC)
Pantai, Malaysia, 59100
Hospital Angeles Chihuahua
Chihuahua, Mexico, 31217
Instituto Nacional de Pediatría
Ciudad de mexico, Mexico, 04530
Instituto Nacional de Rehabilitacion
Tlalpan, Mexico, 14389
Samodzielny Publiczny Centralny Szpital Kliniczny w Warszawie
Warszawa, Poland, 02-097
Puerto Rico
University of Puerto Rico - School of Medicine
San Juan, Puerto Rico, 00936-5067
Russian Federation
Russian National Research Medical University n.a. N.I.Pirogov, structural branch - Research Clinical Institute of Pediatrics n.a. Academician Yu. E. Veltishchev
Moscow, Russian Federation, 125412
"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic Centre
Saint Petersburg, Russian Federation, 194100
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung, Taiwan, 80756
National Taiwan University Hospital
Taipei, Taiwan, 10002
Siriraj Hospital
Bangkok, Thailand, 10700
Istanbul University- Instanbul Medical Faculty
Istanbul, Turkey, 34093
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: March 31, 2022
Last Verified: March 2022
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