This trial is active, not recruiting.

Conditions duchenne muscular dystrophy, becker muscular dystrophy, dystrophinopathy
Treatment ataluren
Phase phase 3
Sponsor PTC Therapeutics
Start date May 2012
End date November 2019
Trial size 95 participants
Trial identifier NCT01557400, PTC124-GD-019-DMD


Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that 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 during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD 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. This study is an open-label trial for patients with nonsense mutation dystrophinopathy who received ataluren in a prior PTC-sponsored study at a clinical trial site in Europe, Israel, Australia, or Canada. The primary objective of the study is to evaluate the long-term safety of ataluren, as determined by adverse events and laboratory abnormalities.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Endpoint classification safety study
Intervention model single group assignment
Masking open label
Primary purpose treatment
ataluren PTC124
Oral powder for suspension taken 3 times per day (10 mg/kg in the morning, 10 mg/kg at mid-day, and 20mg/kg in the evening).

Primary Outcomes

Safety and Tolerability
time frame: 240 weeks

Secondary Outcomes

Change from baseline in 6MWD as measured by the 6MWT (in ambulatory patients)
time frame: 240 weeks
Change from baseline in subject and parent/caregiver-reported activities of daily living, as measured by the Egen Klassifikation (EK) scale (in nonambulatory patients)
time frame: 240 weeks
Change from baseline in timed function tests (in ambulatory patients)
time frame: 240 weeks
Change from baseline in pulmonary function as measured by spirometry (in nonambulatory patients)
time frame: 240 weeks
Change from baseline in physical function as measured by the North Star Ambulatory Assessment (in ambulatory patients)
time frame: 240 weeks
Changes in patient and/or parent/caregiver reports of disease status as measured by a standardized survey administered by site personnel
time frame: 240 weeks

Eligibility Criteria

Male participants of any age.

Inclusion Criteria: - Evidence of signed and dated informed consent/assent document(s) indicating that the subject (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial - History of exposure to ataluren in a prior PTC study in nmDBMD - Male sex - Confirmed screening laboratory values within the specified ranges - In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 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: - Exposure to another investigational drug within 1 month prior to start of study treatment - Eligibility for another ataluren clinical trial that is actively enrolling study participants - Known hypersensitivity to any of the ingredients or excipients of study drug - Ongoing use of the following medications: coumarin based anti-coagulants, phenytoin, tolbutamide, paclitaxel, or systemic aminoglycoside therapy - Ongoing uncontrolled medical/surgical condition, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the patient or make it unlikely that follow-up would be completed

Additional Information

Official title An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy
Description The study will enroll boys with nonsense mutation DBMD who have a history of exposure to ataluren in a prior PTC study in nmDBMD (PTC124-GD-004-DMD, PTC124-GD-004e-DMD, PTC124-GD-007-DMD, PTC124-GD-007e, and PTC124-GD-008-DMD) at a trial site in Europe, Israel, Australia, or Canada. Patients will receive study drug 3 times per day (at breakfast, lunch, and dinner). Study assessments will be performed at clinic visits during screening and every 12 weeks during the 96-week treatment period. Patients must also return to the clinic for a post-treatment visit 6 weeks after the last dose of ataluren.
Trial information was received from ClinicalTrials.gov and was last updated in July 2016.
Information provided to ClinicalTrials.gov by PTC Therapeutics.