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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03179631
Recruitment Status : Recruiting
First Posted : June 7, 2017
Last Update Posted : October 25, 2018
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) less 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.

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 250 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 : March 31, 2020
Estimated Study Completion Date : December 31, 2021

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

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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.
  • Prior or 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

Contact: Mary Frances Harmon 908-912-9256
Contact: PTC Medical Information

  Hide Study Locations
United States, Arizona
Phoenix Childrens Hospital Recruiting
Phoenix, Arizona, United States, 85016
Contact: Nakia Croft    602-933-0641   
Principal Investigator: Saunder Bernes, MD         
United States, California
Children's Hospital of Los Angeles Not yet recruiting
Los Angeles, California, United States, 90027
Contact: Claudia Dozal    323-361-5825   
Principal Investigator: Leigh Ramos-Platt, MD         
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland Not yet recruiting
Oakland, California, United States, 94143
Contact: Minette Bawiin    415-476-2905   
Principal Investigator: Jonathan Strober, MD         
Stanford University Medical Center Recruiting
Palo Alto, California, United States, 94305
Contact: Carolyn McLaughlin Savage    650-206-3178   
Principal Investigator: John Day, MD         
University of California (UC) Davis Medical Center Recruiting
Sacramento, California, United States, 95817
Contact: Erica Goude    916-734-0384   
Principal Investigator: Craig McDonald, MD         
Loma Linda University Children's Hospital Not yet recruiting
San Bernardino, California, United States, 92408
Contact: David Michelson    909-558-5830   
United States, Connecticut
Yale New Haven Hospital Recruiting
New Haven, Connecticut, United States, 06510
Contact: Novagrami George    203-785-5977   
Principal Investigator: Cristian Ionita, MD         
United States, Florida
Child Neurology Center of Northwest Florida Recruiting
Gulf Breeze, Florida, United States, 32561
Contact: Gleta Richardson    850-934-1299   
Principal Investigator: Weldon Mauney III, MD         
United States, Indiana
Indiana University Health - Riley Child Neurology Not yet recruiting
Indianapolis, Indiana, United States, 46202
Contact: Marcia Felker    317-948-7450   
United States, Kansas
University of Kansas Medical Center Recruiting
Kansas City, Kansas, United States, 66160
Contact: Kiley Higgs    913-945-9922   
Principal Investigator: Jeffrey Statland, MD         
United States, Massachusetts
Children's Hospital Boston Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Deborah Cesar    617-919-7039 ext 47039   
Principal Investigator: Basil Darras, MD         
United States, Michigan
University of Michigan - CS Mott Children's Hospital Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Nicholas L Harris    734-998-9972   
Principal Investigator: Erin Neil Knierbein, MD         
Children's Hospital of Michigan Recruiting
Detroit, Michigan, United States, 48201
Contact: Jamal Ameli    313-745-0627   
Principal Investigator: Huiyuan Jiang, MD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Natalya Burlakova    612-626-4690   
Principal Investigator: Peter Karachunski, MD         
United States, New York
Columbia University College of Physicians & Surgeons Recruiting
New York, New York, United States, 10032
Contact: Ameneh Onativia    212-342-3679   
Principal Investigator: Darryl De Vivo, MD         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Sarah Wagner    513-803-9036   
Principal Investigator: Cuixia Tian, MD         
Nationwide Childrens Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Kandice Roush    614-722-2558   
Principal Investigator: Kevin Flanigan, MD         
United States, Oregon
Shriners Hospital for Children Recruiting
Portland, Oregon, United States, 97239
Contact: Cassandra Black    971-282-4616   
Principal Investigator: Erika Finanger, MD         
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: Monica Garza    832-822-1255   
Principal Investigator: Tim Lotze, MD         
University of Texas Health Science Center at San Antonio Recruiting
San Antonio, Texas, United States, 78229-3900
Contact: Floyd Jones    210-567-8222   
Principal Investigator: Ratna Bhavaraju-Sanka, MD         
United States, Utah
University Of Utah Recruiting
Salt Lake City, Utah, United States, 84112
Contact: Brittney Holmberg    801-585-9055   
Principal Investigator: Russell Butterfield, MD         
United States, Virginia
Children's Hospital of the King's Daughters Recruiting
Norfolk, Virginia, United States, 23507
Contact: Terrie Karras Conklin    757-469-9123   
Principal Investigator: Crystal Proud, MD         
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
Contact: Ana Christensen    206-987-5433   
Principal Investigator: Susan Apkon, MD         
United States, Wisconsin
Prevea Clinic, Inc Recruiting
Green Bay, Wisconsin, United States, 54301
Contact: Cindy Quinnell    920-272-1044   
Principal Investigator: Terence Edgar, MD         
Children's Hospital of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Marsha Malloy    414-266-6792   
Principal Investigator: Matthew Harmelink, MD         
Instituto Centenario of Medimet S.A Not yet recruiting
Buenos Aires, Argentina, C1204AAD
Contact: Mariana Perez    5491140613734   
Principal Investigator: Alberto Dubrovsky, MD         
Australia, New South Wales
The Childrens Hospital at Westmead Recruiting
Westmead, New South Wales, Australia, 2145
Contact: Richard Gan    +61 2 9845 0172   
Principal Investigator: Kristi Jones, MD         
Australia, Victoria
The Royal Childrens Hospital Recruiting
Parkville, Victoria, Australia, 3052
Contact: Jemima Mitchell    +61 39936 6157   
Principal Investigator: Monique Ryan, MD         
Lady Cilento Children's Hospital, Brisbane Recruiting
South Brisbane, Australia, Q4101
Contact: Kate Munro    07 3068 2880   
Principal Investigator: Anita Cairns, MD         
Hospital de Clínicas da Universidade Federal de Minas Gerais Not yet recruiting
Belo Horizonte, Brazil, 30130-100
Contact: Sefania Cotta Done    55 31 3409-9255   
Principal Investigator: Juliana Gurgel-Giannetti, MD         
Universidade Federal do Rio de Janeiro Recruiting
Rio De Janeiro, Brazil, 21.941-912
Contact: Daniela Pexioto    21-98718-3296   
Principal Investigator: Alexandra Prufer de Araujo, MD         
Sao Paulo University Recruiting
São Paulo, Brazil, 05403-000
Contact: Fernando Pereira de Campos   
Principal Investigator: Maria Bernadete Resende, MD         
UMHAT Aleksandrovska - Clinic of Neurology Diseases Recruiting
Sofia, Bulgaria, 1431
Contact: Teodora Chamova    35 988 980 2252   
Principal Investigator: Ivaylo Tournev, MD         
UMHAT Sofiamed Recruiting
Sofia, Bulgaria, 1793
Contact: Elena Tzolova-Stamenova    359 888 771 652   
Principal Investigator: Velina Guergueltcheva, MD         
Canada, British Columbia
British Columbia Childrens Hospital Not yet recruiting
Vancouver, British Columbia, Canada, V6H 3V4
Contact: Mihaela Anghelina    604-875-2345 ext 7132   
Principal Investigator: Kathryn Selby, MD         
Canada, Ontario
Childrens Hospital London Health Sciences Centre Not yet recruiting
London, Ontario, Canada, N6A5W9
Contact: Jennifer Petzke    519-685-8500 ext 56109   
Principal Investigator: Craig Campbell, MD         
Childrens Hospital of Eastern Ontario Not yet recruiting
Ottawa, Ontario, Canada, K1H8L1
Contact: Rosa Ramos Garcia    613-737-7600 ext 6058   
Principal Investigator: Hugh McMillan, MD         
Hospital Luis Calvo Mackenna Withdrawn
Santiago, Region Metroplitana, Chile
Hospital de Niños Roberto del Rio Withdrawn
Santiago, Chile, 8380000
General Hospital of Chinese Armed Police Forces Not yet recruiting
Beijing, China, 100039
Contact: Shu Zhang    +8601057976554   
Principal Investigator: Shiwen Wu, MD         
Children's Hospital of Fudan University Not yet recruiting
Shanghai, China, 200032
Contact: Shuizhen Zhou    + 86-021-64931989      
Principal Investigator: Shuizhen Zhou, MD         
Shenzhen Children's Hospital Not yet recruiting
Shenzhen, China, 518038
Contact: Chunxi Han    18938691578   
Principal Investigator: Chunxi Han, MD         
Hong Kong
Queen Mary Hospital Recruiting
Hong Kong, Hong Kong, SAR
Contact: Amanda Mok    +852 2255 4538   
Principal Investigator: Sophelia Chan, MD         
Panchshil Hospital Recruiting
Ahmedabad, Gujarat, India, 380005
Contact: Radhika Patel    07927506336   
Principal Investigator: Siddharth Shah, MD         
National Institute of Mental Health and Neurosciences Not yet recruiting
Bengaluru, Karnataka, India, 560029
Contact: Nalini Atchayaram    91-80-26995139   
Principal Investigator: Nalini Atchayaram, MD         
P.D. Hinduja Hospital Recruiting
Mahim, Maharashtra, India, 400016
Contact: Sandip Thakre    9960923423   
Principal Investigator: Udani Vrajesh, MD         
Apollo Children's Hospital Chennai Recruiting
Chennai, Tamil Nadu, India, 600006
Contact: Rajesh Francis    +91 9087431344   
Principal Investigator: Venkataraman Viswanathan, MD         
Christian Medical College Hospital Vellore Recruiting
Vellore, Tamil Nadu, India, 632004
Contact: Alexander Mathew, MD    9486465523   
Principal Investigator: Alexander Mathew, MD         
Nizam's Institute of Medical Sciences (NIMS) Recruiting
Hyderabad, Telangana, India, 500082
Contact: Pradeep Reddy Konikanti    9949321212   
Principal Investigator: Meena Kanikannan Angamuthu, MD         
Apollo Gleneagles Hospital Recruiting
Kolkata, West Bengal, India, 700054
Contact: Apurba Paul    +91 33 2320 3040   
Principal Investigator: Arijit Chattopadhyay, MD         
Postgraduate Institute of Medical Education and Research Recruiting
Chandigarh, India, 160012
Contact: Naveen Sankhyan    0172-2755322   
Principal Investigator: Naveen Sankhyan, MD         
All India Institute of Medical Sciences Not yet recruiting
New Delhi, India, 110029
Contact: Sheffali Gulati    91-11-26594679   
Principal Investigator: Sheffali Gulati, MD         
Nagoya City University Hospital Recruiting
Nagoya-shi, Aichi, Japan, 467-8602
Contact: Naomi Shimizu    +81-051-858-7215   
Principal Investigator: Shinji Saitoh, MD         
National Hospital Organization Toneyama National Hospital Recruiting
Toyonaka-shi, Osaka, Japan, 560-8552
Contact: Miyuki Kanazawa    +81-6-6853-2001   
Principal Investigator: Tsuyoshi Matsumura, MD         
Tottori University Hospital Recruiting
Yonago, Tottori, Japan, 683-8504
Contact: Shiko Hashida    +81-859-38-6946   
Principal Investigator: Yoshihiro Maegaki, MD         
Hyogo College of Medicine Hospital Recruiting
Hyōgo, Japan, 663-8501
Contact: Saori Ebisuya    +81-798-45-6006   
Principal Investigator: Yasuhiro Takeshima, MD         
Kumamoto University Hospital Recruiting
Kumamoto, Japan, 860-8556
Contact: Yukiko Futa    +81-96-373-5842   
Principal Investigator: Shiro Ozasa, MD         
National Center of Neurology and Psychiatry Recruiting
Tokyo, Japan, 187-8551
Contact: Kayo Katsumura    +81-42-341-2711   
Principal Investigator: Hirofumi Komaki, MD         
Korea, Republic of
Pusan National University Yangsan Hospital Recruiting
Yangsan, Gyeongsangnamdo, Korea, Republic of, 50612
Contact: Jiyung Jeong   
Principal Investigator: Jin-Hong Shin, MD         
Seoul National University Hospital Recruiting
Seoul, Korea, Republic of, 3080
Contact: Miae Kim    82-2-6072-5185   
Principal Investigator: Jong-Hee Chae, MD         
Kuala Lumpur Hospital - Pediatrics Neurology Recruiting
Kuala Lumpur, Malaysia, 50586
Contact: Rusiani Binti Ab Rahman    +6016 2338047   
Principal Investigator: Teik Beng Khoo, MD         
University Malaya Medical Centre (UMMC) Recruiting
Pantai, Malaysia, 59100
Contact: Gim Sim Ooi    +603 7949 2622   
Principal Investigator: Meow Keong Thong, MD         
Hospital Angeles Chihuahua Recruiting
Chihuahua, Mexico, 31217
Contact: Leonel Ramirez Bencomo    +52 1 6255 796927   
Principal Investigator: Micaela del Rosario Avila Cobo, MD         
Instituto Nacional de Pediatría Not yet recruiting
Ciudad de mexico, Mexico, 04530
Contact: Blanca Hernandez-Antunez   
Principal Investigator: Matilde Ruiz-Garcia, MD         
Instituto Nacional de Rehabilitacion Not yet recruiting
Tlalpan, Mexico, 14389
Contact: Antonio Miranda-Duarte    59 991 000 ext 19406   
Principal Investigator: Rosa Elena Escobar-Cedillo, MD         
Samodzielny Publiczny Centralny Szpital Kliniczny w Warszawie Not yet recruiting
Warszawa, Poland, 02-097
Contact: Anna Potulska-Chromik    0048 22 599 18 60   
Principal Investigator: Anna Kostera-Pruszczyk, MD         
Puerto Rico
University of Puerto Rico - School of Medicine Not yet recruiting
San Juan, Puerto Rico, 00936-5067
Contact: Sonia Santos Exposito    787-758-2525 ext 5503   
Principal Investigator: Edwardo Ramos, MD         
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 Recruiting
Moscow, Russian Federation, 125412
Contact: Svetlana Artemyeva    7 916-207-81-53   
Principal Investigator: Dmitry Vlodavets, MD         
"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic Centre Recruiting
Saint Petersburg, Russian Federation, 194100
Contact: Galina Suslova    +7-911-212-26-12   
Principal Investigator: Dmitry Rudenko, MD         
Kaohsiung Medical University Chung-Ho Memorial Hospital Recruiting
Kaohsiung, Taiwan, 80756
Contact: Yun-Hui Chou    886 972 977 320   
Principal Investigator: Yuh-Jyh Jong, MD         
National Taiwan University Hospital Recruiting
Taipei, Taiwan, 10002
Contact: Mei-Lan Liou    +866 2 23123456 ext 71618   
Principal Investigator: Wang-Tso Lee, MD         
Istanbul University- Instanbul Medical Faculty Not yet recruiting
Istanbul, Turkey, 34093
Contact: Sinem Kadrige Caliskan    00905346418499   
Principal Investigator: Hacer Durmus, MD         
Sponsors and Collaborators
PTC Therapeutics
Study Director: Francesco Bibbiani, MD PTC Therapeutics, Inc.

Additional Information:
Responsible Party: PTC Therapeutics Identifier: NCT03179631     History of Changes
Other Study ID Numbers: PTC124-GD-041-DMD
First Posted: June 7, 2017    Key Record Dates
Last Update Posted: October 25, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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