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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT00847379




Registration number
NCT00847379
Ethics application status
Date submitted
16/02/2009
Date registered
18/02/2009
Date last updated
30/05/2017

Titles & IDs
Public title
Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Scientific title
A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy
Secondary ID [1] 0 0
PTC124-GD-007e-DMD
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
Duchenne Muscular Dystrophy 0 0
Becker Muscular Dystrophy 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

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Treatment: Drugs - Ataluren (PTC124)
Treatment: Drugs - Ataluren (PTC124)

Experimental: Ataluren (PTC124) - Ataluren (PTC124)

Experimental: Ataluren (PTC124) - Ataluren (PTC124)


Treatment: Drugs: Ataluren (PTC124)
Oral powder for suspension taken 3 times per day (20 mg/kg with breakfast, 20 mg/kg with lunch, and 40 mg/kg with dinner) for up to 96 weeks.

Treatment: Drugs: Ataluren (PTC124)
Oral powder for suspension taken 3 times per day (20 mg/kg with breakfast, 20 mg/kg with lunch, and 40 mg/kg with dinner) for up to 96 weeks.

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

Outcomes
Primary outcome [1] 0 0
Long-term safety of PTC124 in boys with nonsense-mutation mediated DMD/BMD, as determined by adverse events and laboratory abnormalities
Timepoint [1] 0 0
2 years
Primary outcome [2] 0 0
Long-term safety of PTC124 in boys with nonsense-mutation mediated DMD/BMD, as determined by adverse events and laboratory abnormalities
Timepoint [2] 0 0
2 years
Secondary outcome [1] 0 0
Ambulation
Timepoint [1] 0 0
2 years
Secondary outcome [2] 0 0
Proximal muscle function
Timepoint [2] 0 0
2 years
Secondary outcome [3] 0 0
Heart rate
Timepoint [3] 0 0
2 years
Secondary outcome [4] 0 0
Cognitive ability
Timepoint [4] 0 0
2 years
Secondary outcome [5] 0 0
Health Related Quality of life (HRQL)
Timepoint [5] 0 0
2 years
Secondary outcome [6] 0 0
Activities of daily living
Timepoint [6] 0 0
2 years
Secondary outcome [7] 0 0
Muscle fragility
Timepoint [7] 0 0
2 years
Secondary outcome [8] 0 0
Compliance with ataluren (PTC124) treatment
Timepoint [8] 0 0
2 years
Secondary outcome [9] 0 0
Ataluren (PTC124) pharmacokinetics
Timepoint [9] 0 0
2 years
Secondary outcome [10] 0 0
Ambulation
Timepoint [10] 0 0
2 years
Secondary outcome [11] 0 0
Proximal muscle function
Timepoint [11] 0 0
2 years
Secondary outcome [12] 0 0
Heart rate
Timepoint [12] 0 0
2 years
Secondary outcome [13] 0 0
Cognitive ability
Timepoint [13] 0 0
2 years
Secondary outcome [14] 0 0
Health Related Quality of life (HRQL)
Timepoint [14] 0 0
2 years
Secondary outcome [15] 0 0
Activities of daily living
Timepoint [15] 0 0
2 years
Secondary outcome [16] 0 0
Muscle fragility
Timepoint [16] 0 0
2 years
Secondary outcome [17] 0 0
Compliance with ataluren (PTC124) treatment
Timepoint [17] 0 0
2 years
Secondary outcome [18] 0 0
Ataluren (PTC124) pharmacokinetics
Timepoint [18] 0 0
2 years

Eligibility
Key inclusion criteria
- Completion of blinded study drug treatment in the previous Phase 2b study
(PTC124-GD-007-DMD).

- Ability to provide written informed consent (parental/guardian consent if
applicable)/assent (if <18 years of age).

- In subjects who are sexually active, willingness to abstain from sexual intercourse or
employ a barrier or medical method of contraception during PTC124 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.
Minimum age
No limit
Maximum age
No limit
Gender
Males
Can healthy volunteers participate?
No
Key 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 (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.

Study design
Purpose of the study
Treatment
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
Phase 2/Phase 3
Type of endpoint(s)
Statistical methods / analysis

Recruitment
Recruitment status
Terminated
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
The Royal Children's Hospital - Parkville
Recruitment hospital [2] 0 0
The Children's Hospital at Westmead - Westmead
Recruitment postcode(s) [1] 0 0
3052 - Parkville
Recruitment postcode(s) [2] 0 0
2145 - Westmead
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Colorado
Country [3] 0 0
United States of America
State/province [3] 0 0
Florida
Country [4] 0 0
United States of America
State/province [4] 0 0
Iowa
Country [5] 0 0
United States of America
State/province [5] 0 0
Kansas
Country [6] 0 0
United States of America
State/province [6] 0 0
Massachusetts
Country [7] 0 0
United States of America
State/province [7] 0 0
Minnesota
Country [8] 0 0
United States of America
State/province [8] 0 0
Missouri
Country [9] 0 0
United States of America
State/province [9] 0 0
New York
Country [10] 0 0
United States of America
State/province [10] 0 0
North Carolina
Country [11] 0 0
United States of America
State/province [11] 0 0
Ohio
Country [12] 0 0
United States of America
State/province [12] 0 0
Oregon
Country [13] 0 0
United States of America
State/province [13] 0 0
Pennsylvania
Country [14] 0 0
United States of America
State/province [14] 0 0
Texas
Country [15] 0 0
United States of America
State/province [15] 0 0
Utah
Country [16] 0 0
Belgium
State/province [16] 0 0
Leuven
Country [17] 0 0
Canada
State/province [17] 0 0
Ontario
Country [18] 0 0
Canada
State/province [18] 0 0
Vancouver
Country [19] 0 0
France
State/province [19] 0 0
Marseille cedex 20
Country [20] 0 0
France
State/province [20] 0 0
Nantes cedex 1
Country [21] 0 0
France
State/province [21] 0 0
Paris
Country [22] 0 0
Germany
State/province [22] 0 0
Essen
Country [23] 0 0
Germany
State/province [23] 0 0
Freiburg
Country [24] 0 0
Israel
State/province [24] 0 0
Jerusalem
Country [25] 0 0
Italy
State/province [25] 0 0
Milano
Country [26] 0 0
Italy
State/province [26] 0 0
Roma
Country [27] 0 0
Spain
State/province [27] 0 0
Barcelona
Country [28] 0 0
Spain
State/province [28] 0 0
Valencia
Country [29] 0 0
Sweden
State/province [29] 0 0
Goteborg
Country [30] 0 0
Sweden
State/province [30] 0 0
Stockholm
Country [31] 0 0
United Kingdom
State/province [31] 0 0
London
Country [32] 0 0
United Kingdom
State/province [32] 0 0
Newcastle Upon Tyne
Country [33] 0 0
United Kingdom
State/province [33] 0 0
Oswestry

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
PTC Therapeutics
Address
Country
Other collaborator category [1] 0 0
Commercial sector/Industry
Name [1] 0 0
Genzyme, a Sanofi Company
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Commercial sector/Industry
Name [2] 0 0
Genzyme, a Sanofi Company
Address [2] 0 0
Country [2] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
Duchenne/Becker muscular dystrophy (DMD/BMD) 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
DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally
delivered, investigational drug that has the potential to overcome the effects of the
nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term
safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse
events and laboratory abnormalities. The study will also assess changes in walking, muscle
function, and other important clinical and laboratory measures.
Trial website
https://clinicaltrials.gov/show/NCT00847379
Trial related presentations / publications
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.
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.
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.
Public notes

Contacts
Principal investigator
Name 0 0
Leone Atkinson, M.D., Ph.D.
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
For IPD and results data, please see https://clinicaltrials.gov/show/NCT00847379