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An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy

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: NCT02090959
Recruitment Status : Completed
First Posted : March 19, 2014
Last Update Posted : June 10, 2019
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:

The primary objective of this study is to obtain long term safety data of ataluren in boys with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren [PTC124-GD-020-DMD {NCT01826487}]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study.

This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.

Condition or disease Intervention/treatment 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

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 219 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy
Actual Study Start Date : March 31, 2014
Actual Primary Completion Date : June 21, 2018
Actual Study Completion Date : June 21, 2018

Arm Intervention/treatment
Experimental: Ataluren
Participants will receive ataluren oral suspension daily 10 milligrams per kilogram (mg/kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 144 weeks.
Drug: Ataluren
Ataluren will be administered as per the dose and schedule specified in the arm.
Other Name: PTC124

Primary Outcome Measures :
  1. Number of Participants With Adverse Events (AEs) [ Time Frame: Baseline (Day 1) to 6 weeks post-treatment (Week 150) ]
  2. Number of Participants With Abnormalities in Laboratory Parameters [ Time Frame: Baseline (Day 1) to 6 weeks post-treatment (Week 150) ]
    Laboratory parameters include hematology and serum biochemistry parameters.

Secondary Outcome Measures :
  1. Change From Baseline in Ambulation at Week 144 , as Measured by the 6-Minute Walk Test (6MWT) [ Time Frame: Baseline, Week 144 ]
    The 6MWT is an established outcome measure reflecting the global status of all the systems involved in walking, including the neuromuscular, pulmonary, and cardiovascular systems. 6MWT represents an appropriate approach to assessing ambulatory ability in boys with duchenne and becker muscular dystrophy (DBMD).

  2. Change From Baseline in Proximal Muscle Function at Week 144, as Assessed by Timed Function Tests (TMTs) [ Time Frame: Baseline, Week 144 ]
    TMTs include time to rise from supine position, time to run/walk 10 meters, and time to climb/descend 4 stairs.

  3. Change From Baseline in Physical Function at Week 144, as Assessed by the North Star Ambulatory Assessment (NSAA) Score [ Time Frame: Baseline, Week 144 ]
    The NSAA consists of 17 activities, each scored as 0, 1, or 2. The sum of these 17 scores will be used to form a total score.

  4. Change From Baseline in Motor Performance of the Upper Limb at Week 144, as Measured by the Performance Upper Limb (PUL) Score [ Time Frame: Baseline, Week 144 ]
    The PUL assessment includes 22 items (with an entry item to define starting functional level to avoid testing functional dimensions in which the participant lacks the lower limit of function, and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal level (8 items) dimensions. Scoring varies across the scale between 0-1 to 0-6 according to performance. Each dimension will be scored separately with a maximum score of 16 for shoulder level, 34 for elbow level, and 24 for distal level. Total score will be calculated by adding the 3 level scores (maximum global score of 74).

  5. Change From Baseline in Pediatric Outcomes Data Collection Instrument (PODCI) Transfers/Basic Mobility and Sports/Physical Functioning scores at Week 144 [ Time Frame: Baseline, Week 144 ]
  6. Change From Baseline in Participant and Parent/Caregiver Reported Activities of Daily Living/Disease Status at Week 144 [ Time Frame: Baseline, Week 144 ]
  7. Change From Baseline in Pulmonary Function at Week 144, as Measured by Spirometry [ Time Frame: Baseline, Week 144 ]
    Pulmonary function test will include forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1).

  8. Ataluren Plasma Concentration [ Time Frame: Pre-dose at Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132 and 144 ]
    Pre-dose ataluren plasma concentrations prior to morning ataluren administration at each clinic visit will be assessed by a validated bioanalytical method.

  9. Change From Baseline in Systolic and Diastolic Blood Pressure at Week 150 [ Time Frame: Baseline, Week 150 ]
  10. Change From Baseline in Pulse Rate at Week 150 [ Time Frame: Baseline, Week 150 ]
  11. Change From Baseline in Body Temperature at Week 150 [ Time Frame: Baseline, Week 150 ]

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:   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 participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethic Committee (IRB/IEC) regarding whether one or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed.
  • In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the period of study drug administration and 6-week follow-up period.
  • Willingness and ability to comply with scheduled visits, ataluren administration plan, study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM [refined polydextrose], polyethylene glycol 3350, Lutrol® micro F127 [poloxamer 407], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P [colloidal silica], magnesium stearate).
  • Ongoing participation in any other therapeutic clinical trial.
  • Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.

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): NCT02090959

  Hide Study Locations
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United States, California
University of California, Los Angeles
Los Angeles, California, United States, 90095
UC Davis Medical Center
Sacramento, California, United States, 95817
Stanford University Medical Center
Stanford, California, United States, 94305
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
Children's Hospital Cincinnati
Cincinnati, Ohio, United States, 45229
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
Aleksandrovska Hospital
Sofia, Bulgaria, 1431
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, N6C 2RC
Hospital Luis Calvo Mackenna
Santiago, Región Metropolitana, Chile
Hospital Clinico Universidad Catolica
Santiago, Chile, 8330073
University Hospital Brno
Brno, Czechia, 635 00
Motol University Hospital
Praha, Czechia, 150 06
Hospital de la Timone
Marseille, France, 13385
CHU de Nantes
Nantes Cedex 1, France, 44093
Groupe Hospitalier Pitie-Salpetriere
Paris Cedex 13, France, 75651
Hopital Necker - Enfants Malades
Paris, France, 75015
Universitaetsklinikum Essen
Essen, Germany, 45122
University Medical Center Freiburg
Freiburg, Germany, 79106
Universitat Munchen - von Haunersche Kinder Clinic
Munchen, Germany, 80337
Hadassah University Hospital
Jerusalem, Israel, 91240
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano
Milano, 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, 502-097
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
Erciyes University Faculty of Medicine
Talas/Kayseri, Turkey, 38039
United Kingdom
University College London Institute of Child Health
London, United Kingdom, WC1N 3JH
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
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Study Director: Francesco Bibbiani, M.D. PTC Therapeutics

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: PTC Therapeutics Identifier: NCT02090959     History of Changes
Other Study ID Numbers: PTC124-GD-020e-DMD
First Posted: March 19, 2014    Key Record Dates
Last Update Posted: June 10, 2019
Last Verified: June 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: 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
Muscular Diseases
Muscular Disorders, Atrophic
Neuromuscular Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Nervous System Diseases
Musculoskeletal Diseases