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Trial details imported from

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Registration number
Ethics application status
Date submitted
Date registered
Date last updated

Titles & IDs
Public title
Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada
Scientific title
An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy
Secondary ID [1] 0 0
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Duchenne Muscular Dystrophy 0 0
Becker Muscular Dystrophy 0 0
Dystrophinopathy 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Neurological 0 0 0 0
Other neurological disorders

Study type
Description of intervention(s) / exposure
Treatment: Drugs - Ataluren

Experimental: Ataluren - Ataluren

Treatment: Drugs: Ataluren
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).

Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Primary outcome [1] 0 0
Long term Safety and Tolerability of Ataluren. - The primary objective of this study is to assess the long-term safety and tolerability of 10, 10, 20 mg/kg ataluren in patients with nmDBMD who had prior exposure to ataluren in a PTC-sponsored clinical trial.Safety profile characterized by type, frequency, severity, timing, and relationship to Ataluren of any adverse events or laboratory abnormalities.
Timepoint [1] 0 0
336 weeks

Key inclusion criteria
1. 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.

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 Ethics Committee
(IRB/IEC) regarding whether one or both parents must provide consent and the
appropriate ages for obtaining consent and assent from the subject should be followed.

2. History of exposure to ataluren in a prior PTC study in nmDBMD . Note: Patients are
considered eligible only if they received ataluren during their participation in one
or more prior PTC-sponsored studies of ataluren in nmDBMD. Note: Subjects who have
participated in a prior or ongoing PTC study with ataluren in nmDBMD at a trial site
in the US or Canada, but reside outside of the US and Canada, may be eligible for this
study (with the approval of the PTC Therapeutics Medical Monitor).

3. Male sex.

4. In patients 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.

5. Willingness and ability to comply with scheduled visits, drug administration plan,
study procedures, laboratory tests, and study restrictions. Note: Psychological,
social, familial, or geographical factors that might preclude adequate study
participation should be considered.
Minimum age
No limit
Maximum age
No limit
Can healthy volunteers participate?
Key exclusion criteria
1. Exposure to another investigational drug within 1 month prior to start of study

2. Eligibility for another ataluren clinical trial that is actively enrolling study

3. Known hypersensitivity to any of the ingredients or excipients of ataluren (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).

4. Ongoing use of the following medications:

1. Coumarin-based anticoagulants (eg, warfarin), phenytoin, tolbutamide, or

2. Systemic aminoglycoside therapy

5. 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.

Study design
Purpose of the study
Allocation to intervention
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?

Intervention assignment
Single group
Other design features
Phase 3
Type of endpoint(s)
Statistical methods / analysis

Recruitment status
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Date of last participant enrolment
Date of last data collection
Sample size
Accrual to date
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Royal Children's Hospital - Parkville
Recruitment hospital [2] 0 0
Institute For Neuromuscular Research, The Children's Hospital at Westmead - Westmead
Recruitment postcode(s) [1] 0 0
- Parkville
Recruitment postcode(s) [2] 0 0
- Westmead
Recruitment outside Australia
Country [1] 0 0
State/province [1] 0 0
Country [2] 0 0
State/province [2] 0 0
Country [3] 0 0
State/province [3] 0 0
British Columbia
Country [4] 0 0
State/province [4] 0 0
Country [5] 0 0
State/province [5] 0 0
Country [6] 0 0
State/province [6] 0 0
Country [7] 0 0
State/province [7] 0 0
Country [8] 0 0
State/province [8] 0 0
Country [9] 0 0
State/province [9] 0 0
Country [10] 0 0
State/province [10] 0 0
Country [11] 0 0
State/province [11] 0 0
Country [12] 0 0
State/province [12] 0 0
Country [13] 0 0
State/province [13] 0 0
Country [14] 0 0
State/province [14] 0 0
Country [15] 0 0
State/province [15] 0 0
Country [16] 0 0
State/province [16] 0 0
Country [17] 0 0
United Kingdom
State/province [17] 0 0
Country [18] 0 0
United Kingdom
State/province [18] 0 0
Newcastle Upon Tyne

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
PTC Therapeutics

Ethics approval
Ethics application status

Brief summary
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 comprises a Phase 3, open-label study of ataluren in patients with nmDBMD who
previously received ataluren at an investigator site in a prior PTC-sponsored clinical study.
A separate open-label study (PTC124-GD-016-DMD) is being conducted for nmDBMD patients who
previously received ataluren at an investigator site in the United States (US).
Trial website
Trial related presentations / publications
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007 May 3;447(7140):87-91. Epub 2007 Apr 22.
Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, Leonard EM, Almstead NG, Ju W, Peltz SW, Miller LL. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol. 2007 Apr;47(4):430-44.
Public notes

Principal investigator
Name 0 0
Edward O'Mara, MD
Address 0 0
PTC Therapeutics
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
Other publications