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Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
PTC Therapeutics Identifier:
First received: March 17, 2014
Last updated: October 15, 2014
Last verified: October 2014
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 extension study is to obtain long term safety of ataluren in boys with nonsense mutation dystrophinopathy as determined by adverse events and laboratory abnormalities. The study will also assess changes in physical function, pulmonary function and other important clinical and laboratory measures.

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

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

Resource links provided by NLM:

Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • Long term safety of ataluren in boys with nonsense mutation dystrophinopathy, as determined by adverse events and laboratory abnormalities [ Time Frame: Baseline and 96 weeks ]

Secondary Outcome Measures:
  • Physical Function [ Time Frame: Baseline and 96 weeks ]
    North Star Ambulatory Assessment,Timed Function Testing, Upper Limb Function, 6 Minute Walk Test

  • Patient and/or parent-reported activities of daily living and disease symptoms [ Time Frame: Baseline and 96 weeks ]
  • Quality of Life [ Time Frame: Baseline and 96 weeks ]
  • Pulmonary function [ Time Frame: Baseline and 96 weeks ]
  • Ataluren blood levels [ Time Frame: Baseline and 96 weeks ]

Estimated Enrollment: 220
Study Start Date: March 2014
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Ataluren
10, 10, 20 mg/kg
Drug: Ataluren
Other Name: PTC124

Detailed Description:
This Phase 3, open label safety and efficacy study will be performed at participating sites worldwide. The study will enroll ~ 220 boys with nonsense mutation dystrophinopathy who participated in a previous Phase 3 study of ataluren (Protocol # PTC124-GD-020-DMD). Patients will receive 10, 10, 20 mg/kg of ataluren TID at morning, midday, and evening for approximately 96 weeks. Study assessments will be performed at clinic visits every 12 weeks.

Ages Eligible for Study:   7 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Completion of study treatment in the previous Phase 3, double-blind study protocol (Protocol PTC124-GD-020-DMD).
  • Evidence of signed and dated informed consent/assent document(s) indicating that the patient (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
  • Willingness to abstain from sexual intercourse or employ an approved method of contraception during the period of study drug administration and 6-week follow-up period.
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug
  • Ongoing participation in any clinical trial (except for studies specifically approved by PTC Therapeutics).
  • Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02090959

  Hide Study Locations
United States, California
University of California, Los Angeles
Los Angeles, California, United States, 90095
UC Davis Medical Center
Sacramento, California, United States, 95817
United States, Colorado
Children's Hospital Colorado - Center for Cancer and Blood Disorders
Aurora, Colorado, United States, 80045
United States, Florida
Child Neurology Center of Northwest Florida
Gulf Breeze, Florida, United States, 32561
United States, Illinois
Rush University Medical Center
Chicago, Illinois, United States, 60612
United States, Iowa
University of Iowa
Iowa City, Iowa, United States, 52242
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, Missouri
Washington University School of Medicine, Division of Endocrinology, Metabolism and Lipid Research
Saint Louis, Missouri, United States, 63110
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, 45229-3039
Nationwide Children's Hospital
Columbus, Ohio, United States, 43209
United States, Oregon
Oregon Health & Science University
Portland, Oregon, United States, 97239
United States, Pennsylvania
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
United States, Texas
Childrens Medical Center Dallas, Texas
Dallas, Texas, United States, 75207
Texas Children's Hospital
Houston, Texas, United States, 77030
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84112
United States, Washington
Seattle Children's Hospital - Childhood Cancer and Blood Disorders
Seattle, Washington, United States, 98105
Australia, New South Wales
The Children's Hospital at Westmead
Westmead, New South Wales, Australia, 2145
Australia, Victoria
The Royal Children's Hospital
Parkville, Victoria, Australia, 3052
UZ Leuven
Leuven, Belgium, 3000
Universidade Federal do Rio de Janeiro - Instituto de Puericultura e Pediatria Martagao Gesteira
Rio de Janeiro, Brazil, 21.941-912
Sao Paulo University -HC/FMUSP
São Paulo, Brazil, 05403-900
Canada, Alberta
Alberta Children's Hospital
Calgary, Alberta, Canada, T3B 6A8
Canada, British Columbia
British Columbia Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Canada, Ontario
Children's Hospital of Western Ontario
London, Ontario, Canada, N6A 2E3
Hospital Luis Calvo Mackenna
Santiago, Región Metropolitana, Chile
Hospital Clinico Universidad Catolica
Santiago, Chile, 8330073
Czech Republic
University Hospital Brno
Brno, Czech Republic, 635 00
Motol University Hospital
Praha, Czech Republic, 150 06
Hospital de la Timone
Marseille, France, 13385
CHU de Nantes
Nantes Cedex, France, 44093
Hopital Necker - Enfants Malades
Paris, France, 75015
Groupe Hospitalier La Pitie-Salpetriere
Paris, France, 75651
University of Essen-Duisburg
Essen, Germany, 45122
University Hospital Medical Center Freiburg
Freiburg, Germany, 79106
Hadassah University Hospital
Jerusalem, Israel, 91240
Fondazione IRCS Ca Granda Ospedale Maggiore Policlinico di Milano
Milan, Italy, 20122
Bambino Gesu Hospital
Rome, Italy, 00165
U.O. Complessa di Neuropsichiatria Infantile
Rome, Italy, 00168
Policlinico Universitario G. Martino
Sicily, Italy, 98125
Korea, Republic of
Seoul National University Hospital
Seoul, Korea, Republic of, 110-744
Medical University of Warsaw
Warsaw, Poland, 85- 822
Hospital Sant Joan de Deu
Barcelona, Spain, 08950
Hospital Universitari i Politecnic la Fe
Valencia, Spain, 46026
Queen Silvia Children's Hospital
Goteburg, Sweden, SE-416 85
Astrid Lindgren Childrens Hospital
Stockholm, Sweden, 17176
CHUV Lausanne
Lausanne, Switzerland, 1011
Hacettepe Childrens Hospital
Ankara, Turkey, 06100
United Kingdom
University College London Institute of Child Health
London, United Kingdom, WC1N 1EH
Royal Manchester Children's Hospital
Manchester, United Kingdom, M13 9WL
The Newcastle upon Tyne Hospitals, NHS Foundation Trust
Newcastle upon Tyne, United Kingdom, NE1 3BZ
Sponsors and Collaborators
PTC Therapeutics
Study Director: Robert Spiegel, M.D. PTC Therapeutics
  More Information

Additional Information:
Responsible Party: PTC Therapeutics Identifier: NCT02090959     History of Changes
Other Study ID Numbers: PTC124-GD-020e-DMD
Study First Received: March 17, 2014
Last Updated: October 15, 2014

Keywords provided by PTC Therapeutics:
Duchenne muscular dystrophy
Nonsense mutation
Premature stop codon
Becker muscular dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Nervous System Diseases
Genetic Diseases, Inborn
Neuromuscular Diseases
Musculoskeletal Diseases
Genetic Diseases, X-Linked
Muscular Dystrophy, Duchenne
Muscular Diseases
Muscular Disorders, Atrophic processed this record on March 24, 2017