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Sponsors and Collaborators: |
PTC Therapeutics Muscular Dystrophy Association |
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Information provided by: | PTC Therapeutics |
ClinicalTrials.gov Identifier: | NCT00264888 |
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.
Condition | Intervention | Phase |
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Duchenne Muscular Dystrophy |
Drug: PTC124 |
Phase II |
Study Type: | Interventional |
Study Design: | Treatment, Non-Randomized, Open Label, Dose Comparison, Single Group Assignment, Safety/Efficacy Study |
Official Title: | A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy |
Estimated Enrollment: | 38 |
Study Start Date: | December 2005 |
Study Completion Date: | May 2007 |
Primary Completion Date: | May 2007 (Final data collection date for primary outcome measure) |
In this study, patients with DMD due to a nonsense mutation will be treated with a new investigational drug called PTC124. To determine if a patient qualifies for the study evaluation procedures will be performed within 21 days prior to the start of treatment; these procedures include: history, physical examination, blood and urine tests to assess organ function, electrocardiogram (ECG), muscle biopsy for evaluation of dystrophin protein, and DMD-specific tests of muscle function (for patients who are able to perform such tests). Eligible patients who elect to enroll in the study will then participate in a 28-day treatment period and a 28-day follow-up period (56 days total). The first 6 patients to be enrolled will take PTC124 treatment 3 times per day with meals for 28 days at doses of 4 mg/kg (breakfast), 4 mg/kg (lunch) and 8 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. Next, 18 additional patients will be enrolled to take PTC124 treatment 3 times per day with meals for 28 days at doses of 10 mg/kg (breakfast), 10 mg/kg (lunch), and 20 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. Subsequently, 6-12 additional patients will be enrolled to take PTC124 treatment 3 times per day with meals for 28 days at doses of 20 mg/kg (breakfast), 20 mg/kg (lunch), and 40 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. There will be a 2-night stay at the clinical research center at the beginning and at the end of the 28 days of PTC124 treatment. To assess efficacy, patients will have an end-of-treatment biopsy and will undergo DMD-specific tests of muscle function (for patients who are able to perform such tests). To assess safety and pharmacokinetics, safety assessments, blood and urine tests, and ECGs will be performed at prespecified timepoints during the 28-day treatment period and the 28-day follow-up period. At the end of the 56 days, patients will be assessed periodically regarding their general health status; these evaluations will be performed by telephone contact at approximately 6-month intervals in the first 2 years and at approximately 12-month intervals in subsequent years (up to 5 years total).
Ages Eligible for Study: | 5 Years and older |
Genders Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Exclusion Criteria:
United States, Ohio | |
Cincinnati Children's Hospital Medical Center | |
Cincinnati, Ohio, United States, 45229-3039 | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | |
Philadelphia, Pennsylvania, United States, 19104-4399 | |
United States, Utah | |
University of Utah | |
Salt Lake City, Utah, United States, 84112 |
Principal Investigator: | Richard Finkel, MD | Children's Hospital of Philadelphia |
Study ID Numbers: | PTC124-GD-004-DMD |
Study First Received: | December 9, 2005 |
Last Updated: | January 9, 2009 |
ClinicalTrials.gov Identifier: | NCT00264888 History of Changes |
Health Authority: | United States: Food and Drug Administration |
Duchenne muscular dystrophy Nonsense mutation Premature stop codon |
Becker's Muscular Dystrophy Muscular Dystrophy, Duchenne and Becker Type Muscular Dystrophies Muscular Diseases Muscular Disorders, Atrophic Musculoskeletal Diseases Neuromuscular Diseases |
Genetic Diseases, Inborn Muscular Dystrophy, Duchenne Duchenne Muscular Dystrophy Genetic Diseases, X-Linked Atrophy Muscular Dystrophy |
Muscular Dystrophies Muscular Diseases Genetic Diseases, Inborn Neuromuscular Diseases Musculoskeletal Diseases |
Muscular Disorders, Atrophic Muscular Dystrophy, Duchenne Nervous System Diseases Genetic Diseases, X-Linked |