Duchenne Muscular Dystrophy, Becker Muscular Dystrophy MedDRA version: 9.1 Level: LLT Classification code 10013801 Term: Duchenne muscular dystrophy MedDRA version: 9.1 Level: LLT Classification code 10059117 Term: Becker's muscular dystrophy
Conditions
Interventions
Product Name: PTC124
Product Code: PTC124
Pharmaceutical Form: Powder for oral suspension
CAS Number: 775304-57-9
Current Sponsor code: PTC124
Other descriptive name: PTC0161480, PTC124 Compound 1a, R
Sponsors
PTC Therapeutics, Inc.
Eligibility
Sex/Gender
Male
Inclusion criteria
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 Ethic 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. Male sex. 3. Age =5 years. 4. Phenotypic evidence of DMD/BMD based on the onset of characteristic clinical symptoms or signs (eg, proximal muscle weakness, waddling gait, Gowers’ maneuver, calf hypertrophy) by 9 years of age and an elevated serum CK. Note: Electromyography or prior muscle biopsy are not required for entry into this study. Specifically distinguishing DMD from BMD is not required. 5. Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by College of American Pathologists (CAP), Clinical Laboratory Improvement Act/Amendment (CLIA) or an equivalent organization. 6. Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene. Note: A subject who has documentation of a nonsense mutation need not wait for confirmatory results to start study drug as long as the confirmatory genotyping blood sample has been drawn. 7. Ability to walk =75 meters unassisted during the Screening 6MWT. Note: Other personal assistance or use of assistive devices for ambulation (eg, short leg braces, long leg braces or walkers) is not permitted. 8. Confirmed screening laboratory values within the central laboratory ranges specified in the protocol. Note: Confirmation should be performed for out-of-range values to determine if the abnormality is real or artifactual. Values used to establish eligibility should be the last measurements obtained within the 6-week screening period. 9. In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and follow-up periods. 10. 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 (in particular, the ability to satisfactorily perform the 6MWT) should be considered. Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment. 2. 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. Note: Increases in corticosteroid dose (increase of less than/equal to 5 mg of prednisone or less than/equal to 6 mg of deflazacort) to adjust for increases in body weight will not exclude a subject from participation. 3. Any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure (CHF) within 3 months prior to start of study treatment. 4. Treatment with warfarin within 1 month prior to start of study treatment. 5. Prior therapy with PTC124. 6. 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). 7. Exposure to another investigational drug within 2 months prior to start of study treatment. 8. History of major surgical procedure within 30 days prior to start of study treatment. 9. Ongoing immunosuppressive therapy (other than corticosteroids). 10. Ongoing participation in any other therapeutic clinical trial. 11. Expectation of major surgical procedure (eg, scoliosis surgery) during the 12 month treatment period of the study. 12. Requirement for daytime ventilator assistance. 13. Clinical symptoms and signs of CHF (American College of Cardiology/American Heart Association Stage C or Stage D) or evidence on echocardiogram of clinically significant myopathy. Note: An echocardiogram must have been performed within 2 years prior to study start for subjects <10 years and within 1 year for subjects 10 years or older. 14. 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluation of the ability of PTC124 to improve ambulation as assessed by change in 6-minute walking distance.;Primary end point(s): Change in 6-minute walking distance from baseline to Week-48 in the analysis population.;Secondary Objective: Comprehensive evaluation of the effects of PTC124 on major clinical manifestations of Duchenne and Becker Muscular Dystrophy and on the pathophysiology of the disease. Safety and Exposure: Safety parameters - Safety profile characterised by type, frequency, severity, timing, and relationship to study drug of any adverse event or laboratory abnormalities. Compliance - Study drug compliance as assessed by a subject daily diary and quantification of used and unused study drug PTC124 plasma exposure - Pre-dose and 2-hour post-dose PTC124 plasma concentrations after morning drug administation as assessed by a validated bioanalytical method | — |
Countries
Belgium, France, Germany, Italy, Spain, Sweden, United Kingdom
Outcome results
None listed