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Study of Ataluren (PTC124®) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)
study id #: NCT01009294
condition: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
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 2a trial that will enroll boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study will evaluate the safety and tolerability of ataluren (PTC124) and will also evaluate efficacy outcomes in this patient population.
intervention: Ataluren (PTC124)
mechanism of action: Stop codon read through to promote dystrophin production
last updated: November 22, 2018
start date: November 2009
estimated completion: March 2010
phase of development: Phase 2
size / enrollment: 6
It is planned that this Phase 2a, open-label, safety and efficacy study will be performed at 5 sites in the US and 1 site in the UK.
The study will enroll ~30 boys with nonsense mutation DMD/BMD who have been non-ambulatory for at least one year. Enrollment will be stratified to ensure evaluation of ~15 participants who are receiving chronic corticosteroid therapy and of ~15 participants who are not receiving chronic corticosteroid therapy. Subjects will take ataluren 3 times per day (at breakfast, lunch, and dinner) for 48 weeks (~1 year). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing is required 4 times during the course of the study; this may be performed at the investigational site, at an accredited local laboratory or clinic, or in the subject's home using a nursing service.
- Safety and tolerability of ataluren (PTC124) in non ambulatory subjects with nmDMD/BMD [ Time Frame: 48 weeks ]
- Upper extremity function [Time Frame: 48 weeks]
- Upper extremity range of motion [Time Frame: 48 weeks]
- Upper extremity muscle strength in subjects who are able to perform myometry [Time Frame: 48 weeks]
- Hand fine-motor coordination and dexterity [Time Frame: 48 weeks]
- Pulmonary function [Time Frame: 48 weeks]
- Cardiac function [Time Frame: 48 weeks]
- Cognitive ability [Time Frame: 48 weeks]
- Health-related quality of life [Time Frame: 48 weeks]
- Activities of daily living [Time Frame: 48 weeks]
- Muscle fragility as determined by serum CK levels [Time Frame: 48 weeks]
- Muscle dystrophin expression [Time Frame: 48 weeks]
- Ataluren compliance [Time Frame: 48 weeks]
- Ataluren plasma exposure [ Time Frame: 48 weeks ]
• Diagnosis of DMD or BMD
• Presence of a nonsense mutation in the dystrophin gene
• Unable to ambulate independently for >=1 year due to DMD/BMD
• Presence of sufficient shoulder and elbow function to perform study-related functional procedures (eg, 9-hole peg test)
• Adequate hepatic, renal, and adrenal function
• Ability to provide evaluable pretreatment echocardiogram and lung function assessments
• Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions
• Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if <18 years of age)
• Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start of study treatment
• Use of any intermittent systemic corticosteroid therapy regimen (eg, 10 days on followed by 10 days off, weekend dosing, every-other-day dosing); note that patients must either be receiving a daily dosing regimen of prednisone, prednisolone, or deflazacort at the time of enrollment into the study or must not be receiving any systemic corticosteroids
• Any change in treatment for congestive heart failure within 3 months prior to start of study treatment
• Ongoing warfarin or phenytoin therapy
• Prior therapy with ataluren
• 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).
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