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

key information

study id #: NCT02090959

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

status: completed


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.

intervention: Ataluren

mechanism of action: Stop codon read through to promote dystrophin production

results: https://clinicaltrials.gov/ct2/show/results/NCT02090959

last updated: June 24, 2019

study details

start date: March 31, 2014

estimated completion: June 21, 2018

phase of development: Phase 3

size / enrollment: 219

primary outcomes:

  • Number of Participants With Adverse Events (AEs) [ Time Frame: Baseline (Day 1) to 6 weeks post-treatment (Week 150) ]
  • 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 outcomes:

  • 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).
  • 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.
  • 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.
  • 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).
  • 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 ]
  • Change From Baseline in Participant and Parent/Caregiver Reported Activities of Daily Living/Disease Status at Week 144 [ Time Frame: Baseline, Week 144 ]
  • 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).
  • 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.
  • Change From Baseline in Systolic and Diastolic Blood Pressure at Week 150 [ Time Frame: Baseline, Week 150 ]
  • Change From Baseline in Pulse Rate at Week 150 [ Time Frame: Baseline, Week 150 ]
  • Change From Baseline in Body Temperature at Week 150 [ Time Frame: Baseline, Week 150 ]

inclusion criteria:

• Eligible Sexes:

• 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.
• 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.

study contacts

sponsor: PTC Therapeutics

investigators: Francesco Bibbiani, M.D.

trial center locations: United States, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, Czechia, France, Germany, Israel, Italy, Republic of Korea, Poland, Spain, Sweden, Switzerland, Turkey, United Kingdom