Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD)

• Register: ClinicalTrials.gov
• Last refreshed on: 17 October 2012
• Main ID: NCT00592553
• Date of registration: 01/01/2008
• Primary sponsor: PTC Therapeutics
• Public title: Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
• Scientific title: A Phase 2b Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
• Date of first enrolment: February 2008
• Target sample size: 165
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00592553
• Study type: Interventional
• Study design: Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment

Countries of recruitment

Australia, Belgium, Canada, France, Germany, Israel, Italy, Spain, Sweden, United Kingdom, United States

Contacts

• Name: Leone Atkinson, MD, PhD
• Affiliation: PTC Therapeutics

Key inclusion & exclusion criteria

Inclusion Criteria:

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

- Male sex.

- Age =5 years.

- Phenotypic evidence of DMD/BMD based on the onset of characteristic clinical symptoms
or signs (ie., proximal muscle weakness, waddling gait, and Gowers' maneuver) by 9
years of age, an elevated serum creatinine kinase level, and ongoing difficulty with
walking.

- Documentation of the presence of a nonsense point mutation in the dystrophin gene as
determined by gene sequencing from a laboratory certified by the College of American
Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA) or an
equivalent organization.

- Ability to walk =75 meters unassisted during the screening 6-minute walk test.

- Documentation that a baseline renal ultrasound has been performed.

- Confirmed screening laboratory values within the central laboratory ranges (adrenal,
renal, and serum electrolytes parameters)

- Willingness and ability to comply with scheduled visits, drug administration plan,
study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

- Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of
study treatment.

- Initiation of systemic corticosteroid therapy within 6 months prior to start of study
treatment or change in systemic corticosteroid therapy (eg, initiation, change in
type of drug, dose modification not related to body weight change, schedule
modification, interruption, discontinuation, or reinitiation) within 3 months prior
to start of study treatment.

- Any change (initiation, change in type of drug, dose modification, schedule
modification, interruption, discontinuation, or reinitiation) in
prophylaxis/treatment for congestive heart failure within 3 months prior to start of
study treatment.

- Treatment with warfarin within 1 month prior to start of study treatment.

- Prior therapy with PTC124.

- 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).

- Exposure to another investigational drug within 2 months prior to start of study
treatment.

- History of major surgical procedure within 30 days prior to start of study treatment.

- Ongoing immunosuppressive therapy (other than corticosteroids).

- Ongoing participation in any other therapeutic clinical trial.

- Expectation of major surgical procedure (eg, scoliosis surgery) during the 12 month
treatment period of the study.

- Requirement for daytime ventilator assistance.

- Clinical symptoms and signs of congestive heart failure (American College of
Cardiology/American Heart Association Stage C or Stage D) or evidence on
echocardiogram of clinically significant myopathy

- Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition,
behavioral disorder, alcoholism, drug abuse), medical history, physical findings,
electrocardiogram 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.



Age minimum: 5 Years
Age maximum: N/A
Gender: Male

Health Condition(s) or Problem(s) studied

Becker Muscular Dystrophy

Duchenne Muscular Dystrophy

Intervention(s)

Drug: PTC124

Primary Outcome(s)

To determine the effect of PTC124 on ambulation in subjects with nonsense-mutation-mediated DMD/BMD (as assessed by changes in the distance walked during a 6-minute walk test) [Time Frame: 12 months]

Secondary Outcome(s)

Activity in the community setting [Time Frame: 12 months]

Biceps muscle dystrophin expression [Time Frame: 12 months]

Cardiac function [Time Frame: 12 months]

Cognitive ability [Time Frame: 12 months]

Compliance with treatment [Time Frame: 12 months]

Frequency of accidental falls during ambulation [Time Frame: 12 Months]

Muscle fragility [Time Frame: 12 months]

Muscle strength [Time Frame: 12 months]

Proximal muscle function [Time Frame: 12 months]

PTC124 pharmacokinetics [Time Frame: 12 months]

Quality of Life [Time Frame: 12 months]

Safety [Time Frame: 12 months]

Treatment satisfaction [Time Frame: 12 Months]

Secondary ID(s)

PTC124-GD-007-DMD

Source(s) of Monetary Support

Please refer to primary and secondary sponsors